Article
The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.
The Journal of clinical endocrinology and metabolism - 1 May 2012
Bergman Jorieke E H, de Ronde Willem, Jongmans Marjolijn C J, Wolffenbuttel Bruce H R, Drop Sten L S, Hermus Ad, Bocca Gianni, Hoefsloot Lies H, van Ravenswaaij-Arts Conny M A
Abstract excerpt
CONTEXT: Kallmann syndrome (KS) and CHARGE syndrome are rare heritable disorders in which anosmia and hypogonadotropic hypogonadism co-occur. KS is genetically heterogeneous, and there are at least eight genes involved in its pathogenesis, whereas CHARGE syndrome is caused by autosomal dominant mutations in only one gene, the CHD7 gene. Two independent studies showed that CHD7 mutations can also be found in a...
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