LARS2-Perrault syndrome: a new case report and literature review

BACKGROUND: Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different genes have been identified: HARS2, HSD17B4, CLLP, C10orf, ERAL1, TWNK and LARS2. T...

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Detalles Bibliográficos
Autores principales: Carminho-Rodrigues, Maria Teresa, Klee, Phillipe, Laurent, Sacha, Guipponi, Michel, Abramowicz, Marc, Cao-van, Hélène, Guinand, Nils, Paoloni-Giacobino, Ariane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236518/
https://www.ncbi.nlm.nih.gov/pubmed/32423379
http://dx.doi.org/10.1186/s12881-020-01028-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236518/
https://www.ncbi.nlm.nih.gov/pubmed/32423379
http://dx.doi.org/10.1186/s12881-020-01028-8

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