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First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family
Perrault syndrome (MIM #233400) is a rare autosomal recessive disorder characterized by ovarian dysgenesis and primary ovarian insufficiency in females, and progressive hearing loss in both genders. Recently, mutations in five genes (HSD17B4, HARS2, CLPP, LARS2, and C10ORF2) were found to be respons...
Kaydedildi:
| Yayımlandı: | J Hum Genet |
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| Asıl Yazarlar: | , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2015
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4817218/ https://ncbi.nlm.nih.gov/pubmed/26657938 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2015.149 |
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