SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

The WNT-signaling pathway plays a major role during mammalian embryogenesis. We report a novel autosomal-recessive syndrome that consists of female to male sex reversal and renal, adrenal, and lung dysgenesis and is associated with additional developmental defects. Using a candidate-gene approach, w...

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Detalhes bibliográficos
Main Authors: Mandel, Hannah, Shemer, Revital, Borochowitz, Zvi U., Okopnik, Marina, Knopf, Carlos, Indelman, Margarita, Drugan, Arie, Tiosano, Dov, Gershoni-Baruch, Ruth, Choder, Mordechai, Sprecher, Eli
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2253972/
https://ncbi.nlm.nih.gov/pubmed/18179883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2007.08.005
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