Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

BACKGROUND: Perrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. It has been linked to variants in CLPP, ERAL1, HARS2, HSD17B4, LARS2, and TWNK genes. All reported cases due to TW...

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Detalles Bibliográficos
Autores principales: Munson, Hannah E., De Simone, Lenika, Schwaede, Abigail, Bhatia, Avanti, Mithal, Divakar S., Young, Nancy, Kuntz, Nancy, Rao, Vamshi K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10626675/
https://www.ncbi.nlm.nih.gov/pubmed/37932750
http://dx.doi.org/10.1186/s12920-023-01599-4

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