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,...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Mol Cell Endocrinol
Auteurs principaux: 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
Langue:Inglês
Publié: 2014
Sujets:
Article
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires