Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene

A girl with a prenatal 46,XY karyotype was born with a completely normal female phenotype, including uterus and histologically normal ovaries. In mice with a similar phenotype, the ablation of M33, an ortholog of Drosophila Polycomb, causes male-to-female sex reversal. The analysis of the human homo...

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Bibliografski detalji
Glavni autori: Biason-Lauber, Anna, Konrad, Daniel, Meyer, Monika, deBeaufort, Carine, Schoenle, Eugen J.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2009
Teme:
Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2680992/
https://ncbi.nlm.nih.gov/pubmed/19361780
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.03.016
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