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...

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Bibliografiske detaljer
Udgivet i:	J Hum Genet
Main Authors:	Soldà, Giulia, Caccia, Sonia, Robusto, Michela, Chiereghin, Chiara, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna
Format:	Artigo
Sprog:	Inglês
Udgivet:	2015
Fag:	Article
Online adgang:	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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First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family

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