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ovarian dysgenesis with sensorineural deafness

MIM.233400

Wednesday 6 April 2011

Etiology

- Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. (21464306)

References

- Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC. Proc Natl Acad Sci U S A. 2011 Apr 4. PMID: 21464306