Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

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

NovelSOX2mutations and genotype–phenotype correlation in anophthalmia and microphthalmia

(2009) Adele Schneider et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel SOX2 partner-factor domain mutation in a four-generation family

(2009) Marija Mihelec et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Isolated Familial Hypogonadotropic Hypogonadism and aGNRH1Mutation

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

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

Familial recurrence ofSOX2anophthalmia syndrome: Phenotypically normal mother with two affected daughters

(2008) Adele Schneider et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SOX2Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

(2008) Daniel Kelberman 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

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