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Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene
BACKGROUND: 46,XY sex reversal is a rare disorder and familial cases are even more rare. The purpose of the present study was to determine the molecular basis for a family with three affected siblings who had 46,XY sex reversal. METHODS: DNA was extracted from three females with 46,XY sex reversal,...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Cell Endocrinol |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4332518/ https://ncbi.nlm.nih.gov/pubmed/24907458 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mce.2014.05.006 |
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