Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation.

The skeletal malformation syndrome campomelic dysplasia (CMD1) is caused by mutations within the SOX9 gene or chromosomal rearrangement breakpoints outside SOX9. Approximately three quarters of cases of CMD1 in XY subjects show complete or partial sex reversal. As some mutations cause CMD1 alone and...

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Main Authors: Kwok, C, Goodfellow, P N, Hawkins, J R
Format: Artigo
Sprog:Inglês
Udgivet: 1996
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050742/
https://ncbi.nlm.nih.gov/pubmed/8880588
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