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,...

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Publicat a:Mol Cell Endocrinol
Autors principals: Bhagavath, Bala, Layman, Lawrence C., Ullmann, Reinhard, Shen, Yiping, Ha, Kyungsoo, Rehman, Khurram, Looney, Stephen, McDonough, Paul G., Kim, Hyung-Goo, Carr, Bruce R.
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Article
Accés en línia: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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