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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...
Gorde:
| Egile Nagusiak: | , , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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Nature Publishing Group
2012
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| Gaiak: | |
| Sarrera elektronikoa: | 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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