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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Detalles Bibliográficos
Autores principales: Barbaro, Michela, Cook, Jackie, Lagerstedt-Robinson, Kristina, Wedell, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3299259/
https://www.ncbi.nlm.nih.gov/pubmed/22518125
http://dx.doi.org/10.1155/2012/504904

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3299259/
https://www.ncbi.nlm.nih.gov/pubmed/22518125
http://dx.doi.org/10.1155/2012/504904

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