XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. [electronic resource]
Producer: 20111212Description: 572-9 p. digitalISSN:- 1537-6605
- Chromosomes, Human, X
- Consanguinity
- Estrogens -- metabolism
- Female
- Gene Deletion
- Genetic Markers
- Genotype
- Gonadal Dysgenesis -- genetics
- Gonadal Dysgenesis, 46,XX -- genetics
- Haplotypes
- Hearing Loss, Sensorineural -- genetics
- Homozygote
- Humans
- Male
- Nuclear Proteins -- genetics
- Pedigree
- Proteasome Endopeptidase Complex -- metabolism
- Trans-Activators -- genetics
- Transcription, Genetic
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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