Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing theDAX1Gene | Zendy

Michela Barbaro | Zendy; Mikael Oscarson | Zendy; Jacqueline Schoumans | Zendy; Johan Staaf | Zendy; Sten A. Ivarsson | Zendy; Anna Wedell | Zendy

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Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing theDAX1Gene

Author(s) -

Michela Barbaro,

Mikael Oscarson,

Jacqueline Schoumans,

Johan Staaf,

Sten A. Ivarsson,

Anna Wedell

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-0505

Subject(s) - gene duplication , gonadal dysgenesis , biology , genetics , dysgenesis , copy number variation , fluorescence in situ hybridization , breakpoint , gene , gene dosage , chromosome , genome , endocrinology , gene expression

Testis development is a tightly regulated process that requires an efficient and coordinated spatiotemporal action of many factors, and it has been shown that several genes involved in gonadal development exert a dosage effect. Chromosomal imbalances have been reported in several patients presenting with gonadal dysgenesis as part of severe dysmorphic phenotypes.

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