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Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.

Neuroendocrinology - 1 Jan 2021

Barraud Sara, Delemer Brigitte, Poirsier-Violle Céline, Bouligand Jérôme, Mérol Jean-Claude, Grange Florent, Higel-Chaufour Brigitte, Decoudier Bénédicte, Zalzali Mohamad, Dwyer Andrew A, Acierno James S, Pitteloud Nelly, Millar Robert P, Young Jacques

Abstract excerpt

BACKGROUND: Two loci (CHD7 and SOX10) underlying Kallmann syndrome (KS) were discovered through clinical and genetic analysis of CHARGE and Waardenburg syndromes, conditions that include congenital anosmia caused by olfactory bulb (CA/OBs) defects and congenital hypogonadotropic hypogonadism (CHH). We hypothesized that other candidate genes for KS could be discovered by analyzing rare syndromes presenting with...

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PMID: 32074614
DOI: 10.1159/000506640

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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