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Article

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.

American journal of human genetics - 7 Oct 2011

Zangen David, Kaufman Yotam, Zeligson Sharon, Perlberg Shira, Fridman Hila, Kanaan Moein, Abdulhadi-Atwan Maha, Abu Libdeh Abdulsalam, Gussow Ayal, Kisslov Irit, Carmel Liran, Renbaum Paul, Levy-Lahad Ephrat

Abstract excerpt

XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. Most cases are unexplained but thought to be autosomal recessive. We elucidated the genetic basis of XX-GD in a highly consanguineous Palestinian family by using...

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21963259
DOI: 10.1016/j.ajhg.2011.09.006
PMCID: PMC3188834

Genes

BMP15

Variants

Provenance

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