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Ovarian dysgenesis 8
- ... Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. ...
- ... Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. ...
- ... Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr ...
- ... females may have abnormal development of the ovaries (ovarian dysgenesis). Specific changes in the brain as seen using ...
- ... SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1 PREMATURE OVARIAN FAILURE 7; POF7 SPERMATOGENIC FAILURE 8; SPGF8 NCBI Gene ClinVar Bashamboo A, Ferraz-de- ... of human steroidogenic factor 1 causes XY gonadal dysgenesis without ... Endocrinol. 2007 Aug;157(2):233-8. doi: 10.1530/EJE-07-0113. Citation on ...
- ... and adult ovaries and its signaling contributes to ovarian cell survival. Mol Cell Endocrinol. 2010 Apr 12; ... 10.1210/jc.2007-2023. Epub 2008 Jan 8. Citation on PubMed Prunskaite-Hyyrylainen R, Shan J, ...