Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

A 160 kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains the MAGEB genes and the NR0B1 gene; this is the candidate for gonadal dysgenesis if overexpressed. Most patients present gonadal dysgenesis within a more complex pheno...

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Bibliographic Details
Main Authors: Michela Barbaro, Jackie Cook, Kristina Lagerstedt-Robinson, Anna Wedell
Format: Article
Language:English
Published: Wiley 2012-01-01
Series:International Journal of Endocrinology
Online Access:http://dx.doi.org/10.1155/2012/504904
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