GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing

Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations

(2017) Min Nie et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

(2017) Patricia Himes et al.   GENETICS IN MEDICINE

Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice

(2017) Séverine Marcos et al.   HUMAN MOLECULAR GENETICS

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

(2017) Liliana Catherine Patiño et al.   HUMAN REPRODUCTION

Anti-Müllerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH

(2017) Hélène Bry-Gauillard et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome

(2017) Shana E. McCormack et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

When One Diagnosis Is Not Enough

(2017) Kym M. Boycott et al.   NEW ENGLAND JOURNAL OF MEDICINE

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center

(2017) Nikolaos Kyriakakis et al.   Pituitary

Lessons learned from additional research analyses of unsolved clinical exome cases

(2017) Mohammad K. Eldomery et al.   Genome Medicine

Concepts in diagnosis and therapy for male reproductive impairment

(2017) Herman Tournaye et al.   Lancet Diabetes & Endocrinology

Novel concepts in the aetiology of male reproductive impairment

(2017) Herman Tournaye et al.   Lancet Diabetes & Endocrinology

Reversal of congenital hypogonadotropic hypogonadism in a man with Kallmann syndrome due toSOX10mutation

(2016) Luigi Maione et al.   CLINICAL ENDOCRINOLOGY

Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the “-Omics” Era

(2016) M. I. Stamou et al.   ENDOCRINE REVIEWS

MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism: Table 1

(2016) Andrew A Dwyer et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Dominant-negative kinase domain mutations inFGFR1can explain the clinical severity of Hartsfield syndrome

(2016) Sungkook Hong et al.   HUMAN MOLECULAR GENETICS

Prevalence ofKISS1 Receptormutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study

(2016) Bruno Francou et al.   HUMAN REPRODUCTION

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

(2016) Justine Bouilly et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Phenotypic spectrum ofPOLR3Bmutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies

(2016) Mary R Richards et al.   JOURNAL OF MEDICAL GENETICS

Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome

(2016) Samuel D. Quaynor et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Exome Sequencing and the Management of Neurometabolic Disorders

(2016) Maja Tarailo-Graovac et al.   NEW ENGLAND JOURNAL OF MEDICINE

Causes of hypogonadotropic hypogonadism predict response to gonadotropin substitution in adults

(2016) J. Rohayem et al.   Andrology

10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies

(2015) Nancy Choucair et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel homozygous deletion of segmentalKAL1and entireSTScause Kallmann syndrome and X-linked ichthyosis in a Chinese family

(2015) H. Xu et al.   ANDROLOGIA

Gonadotrophin replacement for induction of fertility in hypogonadal men

(2015) Andrew A. Dwyer et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

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

Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation

(2015) Erina Suzuki et al.   Hormone Research in Paediatrics

Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide

(2015) Eda Mengen et al.   Hormone Research in Paediatrics

Clinical and Hormonal Features of a Male Adolescent with Congenital Isolated Follicle-Stimulating Hormone Deficiency

(2015) Enver Şimşek et al.   Hormone Research in Paediatrics

Sex Steroids, Precursors, and Metabolite Deficiencies in Men With Isolated Hypogonadotropic Hypogonadism and Panhypopituitarism: A GCMS-Based Comparative Study

(2015) Frank Giton et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome

(2015) Anna Cariboni et al.   JOURNAL OF CLINICAL INVESTIGATION

NELF knockout is associated with impaired pubertal development and subfertility

(2015) Samuel D. Quaynor et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

(2015) Ulrich Boehm et al.   Nature Reviews Endocrinology

Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

(2015) Julie Sarfati et al.   Orphanet Journal of Rare Diseases

Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate

(2015) Hao Xu et al.   Biomed Research International

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

(2015) F. A. Correa et al.   Endocrine Connections

Mutations in FEZF1 Cause Kallmann Syndrome

(2014) L. Damla Kotan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SOX10mutations mimic isolated hearing loss

(2014) V. Pingault et al.   CLINICAL GENETICS

A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1

(2014) X.L. Wang et al.   GENETICS AND MOLECULAR RESEARCH

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

(2014) Carine Villanueva et al.   GENETICS IN MEDICINE

The Prevalence ofCHD7Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients

(2014) Séverine Marcos et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Diagnostic Clinical Genome and Exome Sequencing

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

(2014) Dorien Baetens et al.   Orphanet Journal of Rare Diseases

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss

(2014) Kirsi Vaaralahti et al.   PEDIATRIC RESEARCH

Functionally compromisedCHD7alleles in patients with isolated GnRH deficiency

(2014) Ravikumar Balasubramanian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism

(2013) Hichem Miraoui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

(2013) Veronique Pingault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism

(2013) Claudilene Battistin et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

The Next-Generation Sequencing Revolution and Its Impact on Genomics

(2013) Daniel C. Koboldt et al.   CELL

Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency

(2013) Maki Fukami et al.   ENDOCRINE JOURNAL

A man with a DAX1/NR0B1 mutation, normal puberty, and an intact hypothalamic–pituitary–gonadal axis but deteriorating oligospermia during long-term follow-up

(2013) Marie-Laure Raffin-Sanson et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients

(2013) Julie Sarfati et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Variations inPROKR2, But NotPROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia

(2013) Mark J. McCabe et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

(2013) Flavia Amanda Costa-Barbosa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Responsiveness to a Physiological Regimen of GnRH Therapy and Relation to Genotype in Women With Isolated Hypogonadotropic Hypogonadism

(2013) Brent S. Abel et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Germline Prokineticin Receptor 2 (PROKR2) Variants Associated With Central Hypogonadism Cause Differental Modulation of Distinct Intracellular Pathways

(2013) Domenico Vladimiro Libri et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism

(2013) Chun Lin Wang et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

(2013) David H. Margolin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

R31C GNRH1 Mutation and Congenital Hypogonadotropic Hypogonadism

(2013) Luigi Maione et al.   PLoS One

Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome andSOX10Mutations

(2012) M. Elmaleh-Bergès et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

PROKR2 mutations in autosomal recessive Kallmann syndrome

(2012) Johanna Tommiska et al.   FERTILITY AND STERILITY

Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH)

(2012) Vasiliki Koika et al.   GENE

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

(2012) Jacques Young et al.   HUMAN REPRODUCTION

PROKR2 Variants in Multiple Hypopituitarism with Pituitary Stalk Interruption

(2012) Rachel Reynaud et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Hypogonadism in a Patient with Two Novel Mutations of the Luteinizing Hormone β-Subunit Gene Expressed in a Compound Heterozygous Form

(2012) Sabrina Basciani et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

(2012) Taneli Raivio et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Approach to the Male Patient with Congenital Hypogonadotropic Hypogonadism

(2012) Jacques Young   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

InactivatingKISS1Mutation and Hypogonadotropic Hypogonadism

(2012) A. Kemal Topaloglu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Kisspeptins and Reproduction: Physiological Roles and Regulatory Mechanisms

(2012) Leonor Pinilla et al.   PHYSIOLOGICAL REVIEWS

Congenital Hypogonadotropic Hypogonadism Due to GNRH Receptor Mutations in Three Brothers Reveal Sites Affecting Conformation and Coupling

(2012) Javier A. Tello et al.   PLoS One

SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome

(2012) Naresh Kumar Hanchate et al.   PLoS Genetics

The Role of the Prokineticin 2 Pathway in Human Reproduction: Evidence from the Study of Human and Murine Gene Mutations

(2011) Cecilia Martin et al.   ENDOCRINE REVIEWS

Estradiol levels in men with congenital hypogonadotropic hypogonadism and the effects of different modalities of hormonal treatment

(2011) Séverine Trabado et al.   FERTILITY AND STERILITY

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

(2011) Samuel D. Quaynor et al.   FERTILITY AND STERILITY

Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

(2011) Ning Xu et al.   FERTILITY AND STERILITY

Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation

(2011) C. Frapsauce et al.   HUMAN REPRODUCTION

Expanding the Phenotype and Genotype of Female GnRH Deficiency

(2011) Natalie D. Shaw et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

(2011) J. E. H. Bergman et al.   JOURNAL OF MEDICAL GENETICS

Hypogonadotropic hypogonadism in subjects with DAX1 mutations

(2011) Unmesh Jadhav et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Genetic counseling for isolated GnRH deficiency

(2011) Margaret G. Au et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

(2011) Hyung-Goo Kim et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

DAX-1 and DAX-1A expression in human testicular tissues with primary spermatogenic failure

(2011) M. C. Lardone et al.   MOLECULAR HUMAN REPRODUCTION

Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism

(2011) Claire Bouvattier et al.   Nature Reviews Endocrinology

Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations

(2011) Bruno Francou et al.   PLoS One

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

(2011) J. Tornberg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory

(2011) Anna L. Mitchell et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

(2010) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical genetics of Kallmann syndrome

(2010) C. Dodé et al.   ANNALES D ENDOCRINOLOGIE

Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships

(2010) Frédéric Brioude et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism

(2010) Anna Cariboni et al.   HUMAN MOLECULAR GENETICS

Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations

(2010) ISABELLE BAILLEUL-FORESTIER et al.   International Journal of Paediatric Dentistry

TAC3/TACR3Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood

(2010) Elena Gianetti et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Nonsense Mutations inFGF8Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency

(2010) Ericka B. Trarbach et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

TAC3andTACR3Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans

(2010) Jacques Young et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

(2010) Luis Teixeira et al.   JOURNAL OF CLINICAL INVESTIGATION

EMAS position statement: Managing women with premature ovarian failure

(2010) Svetlana Vujovic et al.   MATURITAS

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

(2010) G. P. Sykiotis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel insights in FGFR1 regulation: lessons from Kallmann syndrome

(2010) Youli Hu et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1

(2009) Ericka Barbosa Trarbach et al.   CLINICAL ENDOCRINOLOGY

A new FSHβ mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH

(2009) Marie-Laure Kottler et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism

(2009) Taneli Raivio et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor

(2009) Tulay Guran et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

(2009) Julie Sarfati et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Isolated Familial Hypogonadotropic Hypogonadism and aGNRH1Mutation

(2009) Jérôme Bouligand et al.   NEW ENGLAND JOURNAL OF MEDICINE

GNRH1mutations in patients with idiopathic hypogonadotropic hypogonadism

(2009) Yee-Ming Chan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Is intracytoplasmic sperm injection essential for the treatment of hypogonadotrophic hypogonadism? A comparison between idiopathic and secondary hypogonadotrophic hypogonadism

(2009) Berkan Resorlu et al.   Human Fertility

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recombinant LH (lutropin alfa) for the treatment of hypogonadotrophic women with profound LH deficiency: a randomized, double-blind, placebo-controlled, proof-of-efficacy study

(2008) Z. Shoham et al.   CLINICAL ENDOCRINOLOGY

Fibroblast Growth Factor 8 Signaling through Fibroblast Growth Factor Receptor 1 Is Required for the Emergence of Gonadotropin-Releasing Hormone Neurons

(2008) Wilson C. J. Chung et al.   ENDOCRINOLOGY

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

(2008) Carine Monnier et al.   HUMAN MOLECULAR GENETICS

Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: Case Report

(2008) A. A. Sinisi et al.   HUMAN REPRODUCTION

Mutations inProkineticin 2andProkineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum

(2008) Lindsay W. Cole et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Induction of Spermatogenesis and Fertility during Gonadotropin Treatment of Gonadotropin-Deficient Infertile Men: Predictors of Fertility Outcome

(2008) Peter Y. Liu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

(2008) John Falardeau et al.   JOURNAL OF CLINICAL INVESTIGATION

The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

(2008) J. R. Pedersen-White et al.   MOLECULAR HUMAN REPRODUCTION

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

(2008) A Kemal Topaloglu et al.   NATURE GENETICS

Kallmann’s Syndrome: A Comparison of the Reproductive Phenotypes in Men CarryingKAL1andFGFR1/KAL2Mutations

(2007) Sylvie Salenave et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM