A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature

BACKGROUND: Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss in both sexes and ovarian dysfunction in females. In some cases, patients present with a diversity of neurological signs. Six genes are known to cause Perrault syndrome. CASE REPO...

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Detalles Bibliográficos
Autores principales: Wei, Lan, Hou, Ling, Ying, Yan-Qin, Luo, Xiao-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8754503/
https://www.ncbi.nlm.nih.gov/pubmed/35035228
http://dx.doi.org/10.2147/PGPM.S341172

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8754503/
https://www.ncbi.nlm.nih.gov/pubmed/35035228
http://dx.doi.org/10.2147/PGPM.S341172

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