What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’

Tatton‐Brown‐Rahman syndrome: Six individuals with novel features

(2020) Tugce B. Balci et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth

(2020) Yu An et al.   HUMAN GENETICS

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

(2020) Roser Urreizti et al.   Orphanet Journal of Rare Diseases

Central Adrenal Insufficiency Is Rare in Adults With Prader–Willi Syndrome

(2020) Anna G W Rosenberg et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Rare sex chromosome variation 48, XXYY : An integrative review

(2020) Amy A. Blumling et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment

(2020) Karlijn Pellikaan et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

16p11.2 Copy Number Variations and Neurodevelopmental Disorders

(2020) Benjamin Rein et al.   TRENDS IN NEUROSCIENCES

Dandy-Walker Malformation

(2020) Ana Monteagudo   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Kallman syndrome and central non-obstructive azoospermia

(2020) Sameer Thakker et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Williams Syndrome

(2019) Mark D. Twite et al.   PEDIATRIC ANESTHESIA

Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome

(2019) Sarah Kilcoyne et al.   JOURNAL OF CRANIOFACIAL SURGERY

Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome

(2019) Eirini Kostopoulou et al.   CLINICAL ENDOCRINOLOGY

The clinical presentation caused by truncating CHD8 variants

(2019) Sofia Douzgou et al.   CLINICAL GENETICS

Epilepsy and seizures in young people with 22q11.2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders

(2019) Christopher B. Eaton et al.   EPILEPSIA

Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism

(2019) Mariam Moalla et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Medical and gynecological comorbidities in adult women with Turner syndrome: our multidisciplinary clinic experience

(2019) M. Farquhar et al.   CLIMACTERIC

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

(2019) Alison Foster et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations

(2019) Ganaelle Remerand et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

(2019) Karin Weiss et al.   GENETICS IN MEDICINE

Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis

(2019) Louise C Gregory et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Healthcare recommendations for Joubert syndrome

(2019) Ruxandra Bachmann‐Gagescu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

(2019) Philip J. Ostrowski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms

(2019) Yi-Rou Wang et al.   World Journal of Pediatrics

Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany

(2019) Elin Kahlert et al.   Endocrine Connections

Identification of KISS1R gene mutations in disorders of non‐obstructive azoospermia in the northeast population of China

(2019) Dongfeng Geng et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Worries and needs of adults and parents of adults with neurofibromatosis type 1

(2018) Andre B. Rietman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Disorders of sex development

(2018) Selma Feldman Witchel   BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY

A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report

(2018) Jung-Eun Moon et al.   BMC Medical Genetics

Axenfeld-Rieger syndrome

(2018) M. Seifi et al.   CLINICAL GENETICS

Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations

(2018) Esra Isik et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

The endocrinology of male breast cancer

(2018) Ian S Fentiman   ENDOCRINE-RELATED CANCER

65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN -opathies and precision medicine

(2018) Lamis Yehia et al.   ENDOCRINE-RELATED CANCER

Tuberous sclerosis complex: Concerns and needs of patients and parents from the transitional period to adulthood

(2018) Pauline Both et al.   EPILEPSY & BEHAVIOR

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

(2018) Jennifer J Johnston et al.   GENETICS IN MEDICINE

The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population

(2018) Safa Mujahid et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Combined Immunodeficiency with Ring Chromosome 21

(2018) Melissa Norman et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center

(2018) Yen-Chun Huang et al.   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

(2018) Giovanna Mantovani et al.   Nature Reviews Endocrinology

Ophthalmic manifestations in neurofibromatosis type 1

(2018) Michael Kinori et al.   SURVEY OF OPHTHALMOLOGY

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

(2018) Poh Hui Chia et al.   eLife

Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings

(2018) Neşe Akcan et al.   Journal of Clinical Research in Pediatric Endocrinology

Health supervision for people with Bloom syndrome

(2018) Christopher Cunniff et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort

(2018) Valentina Decimi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

(2018) Joanna Kennedy et al.   GENETICS IN MEDICINE

Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-analysis

(2018) Shrikant Tamhane et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline

(2018) Phyllis W Speiser et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates

(2018) Sarah E. Donoghue et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Behavior and sleep disturbance in Smith–Magenis syndrome

(2018) Brian J. Shayota et al.   CURRENT OPINION IN PSYCHIATRY

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

(2017) Claus H Gravholt et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Endocrine Long-Term Follow-Up of Children with Neurofibromatosis Type 1 and Optic Pathway Glioma


(2017) Ilaria Sani et al.   Hormone Research in Paediatrics

Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke’s cleft cyst

(2017)   Hormones-International Journal of Endocrinology and Metabolism

Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy

(2017) Nicole R. Tartaglia et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Seven cases with Williams-Beuren syndrome: endocrine evaluation and long-term follow-up

(2017) Ayla Güven   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Lifestyle Approaches for People With Intellectual Disabilities: A Systematic Multiple Case Analysis

(2017) Henderika Annegien Steenbergen et al.   Journal of the American Medical Directors Association

Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome

(2017) Céline Bar et al.   Orphanet Journal of Rare Diseases

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

(2017) John T. Killian et al.   PEDIATRIC NEUROLOGY

Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome

(2017) Ajay Kumar et al.   PEDIATRIC NEUROLOGY

Endocrine manifestations of Down syndrome

(2017) Rachel Whooten et al.   Current Opinion in Endocrinology Diabetes and Obesity

Neurofibromatosis type 1

(2017) David H. Gutmann et al.   Nature Reviews Disease Primers

De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

(2016) Karin Weiss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Camptodactyly and the 22q11.2 deletion syndrome

(2016) Natario L. Couser et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

(2016) Milena Mariani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Sleep disorders in Cornelia de Lange syndrome

(2016) Elena Zambrelli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Congenital heart disease and Down syndrome: various aspects of a confirmed association

(2016) S Benhaourech et al.   Cardiovascular Journal of Africa

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system and thromboembolic disease. Review of literature and clinical perspectives

(2016) Andrea Salzano et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management

(2016) Sathya Priya et al.   INDIAN JOURNAL OF OPHTHALMOLOGY

Mutations in TBL1X Are Associated With Central Hypothyroidism

(2016) Charlotte A. Heinen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Tuberous sclerosis complex

(2016) Elizabeth P. Henske et al.   Nature Reviews Disease Primers

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

(2015) Francesco Nicita et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Atypical phenotypes associated with pathogenicCHD7variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

(2015) Caitlin L. Hale et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Down syndrome: Cognitive and behavioral functioning across the lifespan

(2015) Julie Grieco et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life

(2015) J.S. Cohen et al.   CLINICAL GENETICS

Clinical profile and main comorbidities of Spanish adults with Down syndrome

(2015) Diego Real de Asua et al.   European Journal of Internal Medicine

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

(2015) Brian T. Wilson et al.   GENETICS IN MEDICINE

Clinical phenotype of the recurrent 1q21.1 copy-number variant

(2015) Raphael Bernier et al.   GENETICS IN MEDICINE

Practical guidelines for managing adults with 22q11.2 deletion syndrome

(2015) Wai Lun Alan Fung et al.   GENETICS IN MEDICINE

JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance

(2015) Hans L.J. Hoeve et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Arterial hypertension in Turner syndrome

(2015) Katya De Groote et al.   JOURNAL OF HYPERTENSION

Common Genetic and Epigenetic Syndromes

(2015) Darius J. Adams et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Increased Risk of Cerebrovascular Disease Among Patients With Neurofibromatosis Type 1

(2015) Anna R. Terry et al.   STROKE

Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader–Willi syndrome

(2015) Marianne Nordstrøm et al.   Food & Nutrition Research

Association between atypical parathyroid adenoma and neurofibromatosis

(2015) Aline Mesquita Ferreira de Favere et al.   Archives of Endocrinology Metabolism

Angelman syndrome in adulthood

(2014) Anna M. Larson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A population-based profile of 160 Australians with Prader-Willi syndrome: Trends in diagnosis, birth prevalence and birth characteristics

(2014) Tess Lionti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

(2014) Maude Schneider et al.   AMERICAN JOURNAL OF PSYCHIATRY

Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome

(2014) Céline Marsaud et al.   ARCHIVES OF DISEASE IN CHILDHOOD

A descriptive study of colorectal function in adults with Prader-Willi Syndrome: high prevalence of constipation

(2014) Louise Kuhlmann et al.   BMC GASTROENTEROLOGY

Myhre syndrome

(2014) C. Le Goff et al.   CLINICAL GENETICS

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

(2014) Alma Kuechler et al.   HUMAN GENETICS

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

(2014) Ayşegül Ozantürk et al.   JOURNAL OF HUMAN GENETICS

Sleep disturbance as part of the neurofibromatosis type 1 phenotype in adults

(2013) Guy D. Leschziner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Premature ovarian failure due to tetrasomy X in an adolescent girl

(2013) Cengiz Kara et al.   EUROPEAN JOURNAL OF PEDIATRICS

Successful Treatment of Heart Failure in an Adult Patient with Prader-Willi Syndrome

(2013) Hiroaki Kawano et al.   INTERNAL MEDICINE

Structural Pituitary Abnormalities Associated With CHARGE Syndrome

(2013) Louise C. Gregory et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome

(2013) Giuliana Giardino et al.   SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY

Female polysomy-X and systemic lupus erythematosus

(2013) Mordechai Slae et al.   SEMINARS IN ARTHRITIS AND RHEUMATISM

1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation

(2013) Ping Hu et al.   Molecular Cytogenetics

Two cases of CHARGE syndrome with multiple congenital anomalies

(2013) Joo Hyun Chang et al.   INTERNATIONAL OPHTHALMOLOGY

The adverse influence of attention-deficit disorder with or without hyperactivity on cognition in neurofibromatosis type 1

(2012) KAREN LIDZBA et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Heart defects and other features of the 22q11 distal deletion syndrome

(2012) Christina R. Fagerberg et al.   European Journal of Medical Genetics

Prader-Willi syndrome

(2012) Suzanne B. Cassidy et al.   GENETICS IN MEDICINE

TheKAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

(2012) Philippe M. Campeau et al.   HUMAN MUTATION

Understanding obstructive sleep apnea in children with CHARGE syndrome

(2012) Carrie-Lee Trider et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

A controlled register-based study of 460 neurofibromatosis 1 patients: Increased fracture risk in children and adults over 41 years of age

(2012) Eetu Heervä et al.   JOURNAL OF BONE AND MINERAL RESEARCH

PTEN Mutations as a Cause of Constitutive Insulin Sensitivity and Obesity

(2012) Aparna Pal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion

(2012) Jacob A.S. Vorstman et al.   SCHIZOPHRENIA RESEARCH

Bone density and risk of osteoporosis in Klinefelter syndrome

(2011) A Ferlin et al.   ACTA PAEDIATRICA

48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome

(2011) Nicole Tartaglia et al.   ACTA PAEDIATRICA

Type 1 collagenopathy presenting with a Russell-Silver phenotype

(2011) Michael J. Parker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literature

(2011) Nicola Specchio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Noonan syndrome and clinically related disorders

(2011) Marco Tartaglia et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Crossing the transition chasm: experiences and recommendations for improving transitional care of young adults, parents and providers

(2011) A. L. van Staa et al.   CHILD CARE HEALTH AND DEVELOPMENT

Survival at 19 years of age in a total population of children and young people with cerebral palsy

(2011) LENA WESTBOM et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Clinical report: An interstitial deletion of 16p13.11 detected by array CGH in a patient with infantile spasms

(2011) M. Balasubramanian et al.   European Journal of Medical Genetics

Early onset of primary hypogonadism revealed by serum anti-Müllerian hormone determination during infancy and childhood in trisomy 21

(2011) R. P. Grinspon et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

Increased Prevalence of Carpal Tunnel Syndrome in Albright Hereditary Osteodystrophy

(2011) Andrew W. Joseph et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Standardized Multidisciplinary Evaluation Yields Significant Previously Undiagnosed Morbidity in Adult Women with Turner Syndrome

(2011) Kim Freriks et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

(2011) Ren-Hua Chung et al.   Molecular Autism

Quantitative analysis of limb anomalies in CHARGE syndrome: Correlation with diagnosis and characteristic CHARGE anomalies

(2010) Katharine E. Brock et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Radiologic and hormonal evaluation of pituitary abnormalities in patients with Bardet–Biedl syndrome

(2010) Tulay Guran et al.   CLINICAL DYSMORPHOLOGY

The Myhre syndrome: report of two cases

(2010) D. Garcia-Cruz et al.   CLINICAL GENETICS

Deletion in chromosome region 22q11 in a child with CHARGE association

(2010) Koen Devriendt et al.   CLINICAL GENETICS

Phenotypic manifestations of copy number variation in chromosome 16p13.11

(2010) Sandesh C Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Endocrine Disorders in Children with Prader-Willi Syndrome – Data from 142 Children of the French Database

(2010) G. Diene et al.   Hormone Research in Paediatrics

A review of trisomy X (47,XXX)

(2010) Nicole R Tartaglia et al.   Orphanet Journal of Rare Diseases

Communication breaks-Down: From neurodevelopment defects to cognitive disabilities in Down syndrome

(2010) Andrea Contestabile et al.   PROGRESS IN NEUROBIOLOGY

Cost-Effectiveness of Specialized Multidisciplinary Heart Failure Clinics in Ontario, Canada

(2010) Harindra C. Wijeysundera et al.   VALUE IN HEALTH

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

(2009) R Day et al.   CLINICAL GENETICS

Life expectancy in cerebral palsy: an update

(2009) David Strauss et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Transition to adult services for young people with disabilities: current evidence to guide future research

(2009) DEBRA STEWART   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Fatigue and chronic fatigue syndrome-like complaints in the general population

(2009) M. van't Leven et al.   EUROPEAN JOURNAL OF PUBLIC HEALTH

Jacobsen syndrome

(2009) Teresa Mattina et al.   Orphanet Journal of Rare Diseases

Transition to Adult-Oriented Health Care: Perspectives of Youth and Adults with Complex Physical Disabilities

(2009) Nancy L. Young et al.   PHYSICAL & OCCUPATIONAL THERAPY IN PEDIATRICS

A new look at XXYY syndrome: Medical and psychological features

(2008) Nicole Tartaglia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cranial nerve manifestations in CHARGE syndrome

(2008) Kim D. Blake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion

(2008) Lawrence R. Shiow et al.   CLINICAL IMMUNOLOGY

Kallmann syndrome

(2008) Catherine Dodé et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE