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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Detalles Bibliográficos
Autores principales: Soldà, Giulia, Caccia, Sonia, Robusto, Michela, Chiereghin, Chiara, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817218/
https://www.ncbi.nlm.nih.gov/pubmed/26657938
http://dx.doi.org/10.1038/jhg.2015.149

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817218/
https://www.ncbi.nlm.nih.gov/pubmed/26657938
http://dx.doi.org/10.1038/jhg.2015.149

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