Etiologies of uterine malformations

Mutations inWNT9Bare associated with Mayer-Rokitansky-Küster-Hauser syndrome

(2016) D.E.J. Waschk et al.   CLINICAL GENETICS

Expanding theSPECC1Lmutation phenotypic spectrum to include Teebi hypertelorism syndrome

(2015) Elizabeth J. Bhoj et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dysmorphologic assessment in 115 Mayer–Rokitansky–Küster–Hauser patients

(2015) Faustina Lalatta et al.   CLINICAL DYSMORPHOLOGY

The role of EMX2 in uterine development

(2015) Hugh S. Taylor   FERTILITY AND STERILITY

Mayer-Rokitansky-Küster-Hauser syndrome discordance in monozygotic twins: matrix metalloproteinase 14, low-density lipoprotein receptor–related protein 10, extracellular matrix, and neoangiogenesis genes identified as candidate genes in a tissue-specific mosaicism

(2015) Katharina Rall et al.   FERTILITY AND STERILITY

Nonsense mutation of EMX2 is potential causative for uterus didelphysis: first molecular explanation for isolated incomplete müllerian fusion

(2015) Shan Liu et al.   FERTILITY AND STERILITY

DNA copy number variations are important in the complex genetic architecture of müllerian disorders

(2015) Ruth McGowan et al.   FERTILITY AND STERILITY

Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts

(2015) Ann-Christin Tewes et al.   FERTILITY AND STERILITY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in identical twins – a case report and implications for reproduction in MRKH women

(2015) Stella Ruth Milsom et al.   GYNECOLOGICAL ENDOCRINOLOGY

Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Kuster-Hauser syndrome

(2015) M.-J. Chen et al.   HUMAN REPRODUCTION

Features of Turner syndrome among a group of Cameroonian patients

(2015) Ambroise Wonkam et al.   INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS

The association between Mullerian anomalies and short-term pregnancy outcome

(2015) Liran Hiersch et al.   Journal of Maternal-Fetal & Neonatal Medicine

Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome

(2015) Katharina Rall et al.   Journal of Pediatric and Adolescent Gynecology

A Novel Mutation of the HNF1B Gene Associated With Hypoplastic Glomerulocystic Kidney Disease and Neonatal Renal Failure

(2015) Maria Inês Alvelos et al.   MEDICINE

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

(2015) Nan Wu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han

(2015) Wenqing Ma et al.   PLoS One

Preformed Wolffian duct regulates Müllerian duct elongation independently of canonical Wnt signaling or Lhx1 expression

(2015) Masahiko Chiga et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders

(2014) Brett M. Martin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: A case report and review of the literature

(2014) Morten Herlin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassingEMX2

(2014) Juliette Piard et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Severe manifestations of hand-foot-genital syndrome associated with a novelHOXA13mutation

(2014) Eri Imagawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Truncating mutations inLRP4lead to a prenatal lethal form of Cenani-Lenz syndrome

(2014) Amanda S. Lindy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Effects of endocrine disruptors in the development of the female reproductive tract

(2014) Elaine Maria Frade Costa et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

Polycystic kidney disease in neonate with acrorenal mandibular syndrome

(2014) Savithadevi G. Sanganalmatha et al.   CLINICAL DYSMORPHOLOGY

Lhx1 is required in Müllerian duct epithelium for uterine development

(2014) Cheng-Chiu Huang et al.   DEVELOPMENTAL BIOLOGY

Müllerian duct anomalies diagnosed by saline contrast sonohysterography: prevalence in a general population

(2014) Eva Dreisler et al.   FERTILITY AND STERILITY

Non-canonical Wnt5a/Ror2 signaling regulates kidney morphogenesis by controlling intermediate mesoderm extension

(2014) Kangsun Yun et al.   HUMAN MOLECULAR GENETICS

Mutations inSPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

(2014) Paul Kruszka et al.   JOURNAL OF MEDICAL GENETICS

Non-Obstructive Müllerian Anomalies

(2014) Jennifer E. Dietrich et al.   Journal of Pediatric and Adolescent Gynecology

Mild Recessive Mutations in Six Fraser Syndrome-Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

(2014) S. Kohl et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum

(2014) Rhian L. Clissold et al.   Nature Reviews Nephrology

Coordination of kidney organogenesis by Wnt signaling

(2014) Kimmo Halt et al.   PEDIATRIC NEPHROLOGY

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

(2014) Asaf Vivante et al.   PEDIATRIC NEPHROLOGY

Mutation screening of HOXA7 and HOXA9 genes in Chinese women with Müllerian duct abnormalities

(2014) Xinxia Chen et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Mutations in HOXA11 are not responsible for Müllerian duct anomalies in Chinese patients

(2014) Xinxia Chen et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Molecular Genetics of Müllerian Duct Formation, Regression and Differentiation

(2014) Rachel D. Mullen et al.   Sexual Development

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

(2013) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity for a novel truncating mutation confirmsTBX15deficiency as the cause of Cousin syndrome

(2013) Esra Dikoglu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sirenomelia after phenobarbital and carbamazepine therapy in pregnancy

(2013) Oana Sorina Tica et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

(2013) I. Filges et al.   CLINICAL GENETICS

A Report of Two cases of Al-Awadi Raas-Rothschild Syndrome (AARRS) supporting that “Apparent” Phocomelia differentiates AARRS from Schinzel Phocomelia Syndrome (SPS)

(2013) Mohammad M. AlQattan et al.   GENE

HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina

(2013) Arif B. Ekici et al.   GENE

Involvement of ITIH5, a Candidate Gene for Congenital Uterovaginal Aplasia (Mayer-Rokitansky-Küster-Hauser Syndrome), in Female Genital Tract Development

(2013) KARINE MORCEL et al.   GENE EXPRESSION

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

(2013) Duncan B. Sparrow et al.   HUMAN MOLECULAR GENETICS

Management of Lower Vaginal Agenesis in a Patient with Unicornuate Uterus

(2013) Rebecca H. Jessel et al.   Journal of Pediatric and Adolescent Gynecology

Familial Currarino syndrome associated with Hirschsprung disease: Two cases of a mother and daughter

(2013) Koichi Ohno et al.   JOURNAL OF PEDIATRIC SURGERY

A newborn with caudal duplication and duplex imperforate anus

(2013) Tuğba Acer et al.   JOURNAL OF PEDIATRIC SURGERY

Renal Hypodysplasia Associates with a Wnt4 Variant that Causes Aberrant Canonical Wnt Signaling

(2013) A. Vivante et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia

(2013) Maria Sandbacka et al.   Orphanet Journal of Rare Diseases

Gene regulatory network of renal primordium development

(2013) Michael Marcotte et al.   PEDIATRIC NEPHROLOGY

Mayer-Rokitansky-Kuster-Hauser Syndrome: Diagnosis with MR Imaging

(2013) Margaret Anne Hall-Craggs et al.   RADIOLOGY

WNT9B in 542 Chinese women with Müllerian duct abnormalities: mutation analysis

(2013) Rong Tang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Analysis of WNT9B mutations in Chinese women with Mayer–Rokitansky–Küster–Hauser syndrome

(2013) Man Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

In utero phthalate effects in the female rat: A model for MRKH syndrome

(2013) Bethany R. Hannas et al.   TOXICOLOGY LETTERS

Cloacal exstrophy: A single center experience

(2013) Hemonta Kr. Dutta   Journal of Pediatric Urology

Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns

(2013) Tracy Tucker et al.   Molecular Genetics & Genomic Medicine

TCTN3 Mutations Cause Mohr-Majewski Syndrome

(2012) Sophie Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LHX1 mutation screening in 96 patients with müllerian duct abnormalities

(2012) Mingdi Xia et al.   FERTILITY AND STERILITY

Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome

(2012) S. Ledig et al.   HUMAN REPRODUCTION

A Novel GJC2 Mutation Associated with Hypomyelination and Müllerian Agenesis Syndrome: Coincidence or a New Entity?

(2012) Cengiz Yalcinkaya et al.   NEUROPEDIATRICS

Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)

(2012) Patricia G Oppelt et al.   Reproductive Biology and Endocrinology

Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women

(2012) Xinyue Chang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

PAX2 in 192 Chinese women with Müllerian duct abnormalities: mutation analysis

(2012) Peng Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Polymorphisms in DLGH1 and LAMC1 in Mayer–Rokitansky–Kuster–Hauser syndrome

(2012) Celia Ravel et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Lack of association of WNT5A mutations with Müllerian duct abnormalities

(2012) Keliang Wu et al.   REPRODUCTIVE BIOMEDICINE ONLINE

A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families

(2011) Wafaa Eyaid et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens

(2011) Paola Ciotti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A new case of HDR syndrome with severe female genital tract malformation: Comment on “Novel Mutation in the Gene Encoding the GATA3 Transcription Factor in a Spanish Familial Case of Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome With Fe

(2011) Oana Moldovan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The association of a dysmorphic pelvis, absence of pubic rami, hip dysplasia, and genitourinary anomalies

(2011) Ravi K. Bashyal et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome

(2011) Karine Morcel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome

(2011) Chloé Quélin et al.   European Journal of Medical Genetics

Analysis of PBX1 mutations in 192 Chinese women with Müllerian duct abnormalities

(2011) Jinlong Ma et al.   FERTILITY AND STERILITY

Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome)

(2011) Pascal Philibert et al.   FERTILITY AND STERILITY

Variants of the WNT7A gene in Chinese patients with müllerian duct abnormalities

(2011) Yujie Dang et al.   FERTILITY AND STERILITY

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

(2011) Catherine Deveault et al.   HUMAN MUTATION

A novel mutation of HOXA10 in a Chinese woman with a Müllerian duct anomaly

(2011) Zhi Cheng et al.   HUMAN REPRODUCTION

The history of female genital tract malformation classifications and proposal of an updated system†

(2011) Pedro Acién et al.   HUMAN REPRODUCTION UPDATE

The prevalence of congenital uterine anomalies in unselected and high-risk populations: a systematic review

(2011) Y.Y. Chan et al.   HUMAN REPRODUCTION UPDATE

High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia

(2011) S. Nik-Zainal et al.   JOURNAL OF MEDICAL GENETICS

Interaction between sex hormones and WNT/β-catenin signal transduction in endometrial physiology and disease

(2011) Paul H. van der Horst et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

(2011) Karine Morcel et al.   Orphanet Journal of Rare Diseases

Evaluation of SHOX copy number variations in patients with Müllerian aplasia

(2011) Maria Sandbacka et al.   Orphanet Journal of Rare Diseases

A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients

(2011) Katharina Rall et al.   Orphanet Journal of Rare Diseases

A fetus diagnosed with Casamassima-Morton-Nance syndrome with de novo del(8)(p23.1)

(2011) Aiko Sasaki et al.   PRENATAL DIAGNOSIS

Renal and urological abnormalities occurring with Mullerian anomalies

(2011) Margaret A. Hall-Craggs et al.   Journal of Pediatric Urology

Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome

(2011) L. Parker et al.   Foot and Ankle Surgery

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

(2010) Piranit N. Kantaputra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations

(2010) Richard A. Oram et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Hereditary urogenital adysplasia

(2010) R. Neil Schimke et al.   CLINICAL GENETICS

The Wolf-Hirschhorn (4p-) syndrome

(2010) Virginia P. Johnson et al.   CLINICAL GENETICS

A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome

(2010) K Steindl et al.   CLINICAL GENETICS

Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

(2010) L. Heidet et al.   Clinical Journal of the American Society of Nephrology

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome

(2010) Akie Nakamura et al.   ENDOCRINE JOURNAL

Bisphenol-A exposure in utero leads to epigenetic alterations in the developmental programming of uterine estrogen response

(2010) Jason G. Bromer et al.   FASEB JOURNAL

Congenital malformations of the female genital tract: the need for a new classification system

(2010) Grigoris F. Grimbizis et al.   FERTILITY AND STERILITY

Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome

(2010) Susanne Ledig et al.   FERTILITY AND STERILITY

A SPECTRUM OF PHENOTYPICAL EXPRESSION OF NEU-LAXOVA SYNDROME: Three Case Reports and a Review of the Literature

(2010) Wendy L. Coto-Puckett et al.   Fetal and Pediatric Pathology

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

(2010) Cristina Gervasini et al.   GENETICS IN MEDICINE

Clinical and Molecular Evaluation ofSHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

(2010) S. Benito-Sanz et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly

(2010) N. Maksimova et al.   JOURNAL OF MEDICAL GENETICS

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

Quantification of the Familial Contribution to Müllerian Anomalies

(2010) Ahmad O. Hammoud et al.   OBSTETRICS AND GYNECOLOGY

Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations

(2010) Louise Harewood et al.   PLoS One

HOX A10 and HOX A11 mutation scan in congenital malformations of the female genital tract

(2010) Spiros A. Liatsikos et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: Report of a third family and review

(2009) Abdulgani Tatar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association

(2009) Vera Uliana et al.   CLINICAL DYSMORPHOLOGY

Plumbing in the embryo: developmental defects of the urinary tracts

(2009) N Uetani et al.   CLINICAL GENETICS

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

(2009) E.K. Bijlsma et al.   European Journal of Medical Genetics

VATER/VACTERL syndrome (vertebra/anus/cardiac/trachea/esophogus/radius/renal/limb anomalies) with a noncommunicating functioning uterine horn and a unicornuate uterus: a case report

(2009) Natalie Nunes et al.   FERTILITY AND STERILITY

Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome

(2009) Celia Ravel et al.   FERTILITY AND STERILITY

A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies

(2009) Elisa M. Jorgensen et al.   FERTILITY AND STERILITY

The developing female genital tract: from genetics to epigenetics

(2009) Julie Masse et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

(2009) B. A. Fernandez et al.   JOURNAL OF MEDICAL GENETICS

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

(2009) Jill A. Rosenfeld et al.   Journal of Neurodevelopmental Disorders

Discordance in Mayer-von Rokitansky-Küster-Hauser Syndrome Noted in Monozygotic Twins

(2009) Ugonna A. Duru et al.   Journal of Pediatric and Adolescent Gynecology

Congenital Anomalies of the Female Reproductive Tract in a Patient with Goltz Syndrome

(2009) Jhansi Reddy et al.   Journal of Pediatric and Adolescent Gynecology

Gastrointestinal ramifications of the cloacal exstrophy complex: a 44-year experience

(2009) David Sawaya et al.   JOURNAL OF PEDIATRIC SURGERY

Müllerian Anomalies

(2009) Lesley L. Breech et al.   OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

(2009) Laura Bernardini et al.   Orphanet Journal of Rare Diseases

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

(2008) Hannah Mandel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fraser syndrome due to homozygosity for a splice site mutation ofFREM2

(2008) Yousef Shafeghati et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: A new genotype/phenotype correlation?

(2008) Laura Guazzarotti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genitale und extragenitale Fehlbildungen beim Mayer-Rokitansky-Küster-Syndrom

(2008) W. Heidenreich   DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT

Higher incidence of linked malformations in siblings of Mayer-Rokitansky-Kuster-Hauser-syndrome patients

(2008) M. Wottgen et al.   HUMAN REPRODUCTION

Molecular analysis of the β-catenin gene in patients with the Mayer-Rokitansky-Küster-Hauser syndrome

(2008) Juliana B. Drummond et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Identification and Functional Analysis of a New WNT4 Gene Mutation among 28 Adolescent Girls with Primary Amenorrhea and Müllerian Duct Abnormalities: A French Collaborative Study

(2008) Pascal Philibert et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

(2008) Sheila Unger et al.   NATURE GENETICS

Tbx6 Regulates Left/Right Patterning in Mouse Embryos through Effects on Nodal Cilia and Perinodal Signaling

(2008) Anna-Katerina Hadjantonakis et al.   PLoS One

Association of Mayer–Rokitansky–Küster–Hauser Syndrome with Thrombocytopenia Absent Radii syndrome: A rare presentation

(2007) Riaz Ahmad et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

HOXA10 mutations in congenital absence of uterus and vagina

(2007) Sasmira Lalwani et al.   FERTILITY AND STERILITY