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Article

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

American journal of human genetics - 1 Oct 2008

Kim Hyung-Goo, Kurth Ingo, Lan Fei, Meliciani Irene, Wenzel Wolfgang, Eom Soo Hyun, Kang Gil Bu, Rosenberger Georg, Tekin Mustafa, Ozata Metin, Bick David P, Sherins Richard J, Walker Steven L, Shi Yang, Gusella James F, Layman Lawrence C

Abstract excerpt

CHARGE syndrome and Kallmann syndrome (KS) are two distinct developmental disorders sharing overlapping features of impaired olfaction and hypogonadism. KS is a genetically heterogeneous disorder consisting of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia, and is most commonly due to KAL1 or FGFR1 mutations. CHARGE syndrome, a multisystem autosomal-dominant disorder, is caused by CHD7 mutations. We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Structure, Tertiary

Share to Sequence Homology, Amino Acid

Source

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Identifiers

PMID: 18834967
DOI: 10.1016/j.ajhg.2008.09.005
PMCID: PMC2561938

Genes

IHH
CHD7
FGFR1

Provenance

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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