A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling difficult and potentially hindering optimal treatmen...

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Hlavní autoři: White, Stefan, Hewitt, Jacqueline, Turbitt, Erin, van der Zwan, Yvonne, Hersmus, Remko, Drop, Stenvert, Koopman, Peter, Harley, Vincent, Cools, Martine, Looijenga, Leendert, Sinclair, Andrew
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2012
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3283189/
https://ncbi.nlm.nih.gov/pubmed/22071891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.204
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