Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

We describe a maternally transmitted genomic-imprinting syndrome of mental retardation, hypotonia, and unique dysmorphism with elongated face. We mapped the disease-associated locus to ∼7.27 Mb on chromosome 8q24 and demonstrated that the disease is caused by a missense mutation in the maternal copy...

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Detalhes bibliográficos
Main Authors: Barel, Ortal, Shalev, Stavit A., Ofir, Rivka, Cohen, Asi, Zlotogora, Joel, Shorer, Zamir, Mazor, Galia, Finer, Gal, Khateeb, Shareef, Zilberberg, Noam, Birk, Ohad S.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2495061/
https://ncbi.nlm.nih.gov/pubmed/18678320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.07.010
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