Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

doi:10.1073/pnas.1417438111

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Article

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

Proceedings of the National Academy of Sciences of the United States of America - 16 Dec 2014

Balasubramanian Ravikumar, Choi Jin-Ho, Francescatto Ludmila, Willer Jason, Horton Edward R, Asimacopoulos Eleni P, Stankovic Konstantina M, Plummer Lacey, Buck Cassandra L, Quinton Richard, Nebesio Todd D, Mericq Veronica, Merino Paulina M, Meyer Brian F, Monies Dorota, Gusella James F, Al Tassan Nada, Katsanis Nicholas, Crowley William F

Abstract excerpt

Inactivating mutations in chromodomain helicase DNA binding protein 7 (CHD7) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a minor feature. Recent reports have described predominantly missense CHD7 alleles in IGD patients, but it is unclear if these alleles are relevant to causality or overall genetic burden of Kallmann...

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Identifiers

PMID: 25472840
DOI: 10.1073/pnas.1417438111
PMCID: PMC4273325

Genes

CHD7

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