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PSMC3IP-associated XX ovarian dysgenesis - Humpath.com - Human pathology

Home > E. Pathology by systems > Genital system > PSMC3IP-associated XX ovarian dysgenesis

PSMC3IP-associated XX ovarian dysgenesis

Monday 14 November 2011

Etiology

- PSMC3IP mutation in PSMC3IP-associated XX ovarian dysgenesis (21963259)

See also

- PSMC3IP

References

- XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E. Am J Hum Genet. 2011 Oct 7;89(4):572-9. PMID: 21963259