CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with nor...

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Main Authors: Jongmans, MCJ, van Ravenswaaij-Arts, CMA, Pitteloud, N, Ogata, T, Sato, N, Claahsen-van der Grinten, HL, van der Donk, K, Seminara, S, Bergman, JEH, Brunner, HG, Crowley, WF, Hoefsloot, LH
Format: Artigo
Language:Inglês
Published: 2008
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2854009/
https://ncbi.nlm.nih.gov/pubmed/19021638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2008.01107.x
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