A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family

Perrault syndrome (PRLTS) is a heterogeneous group of clinical and genetic disorders characterized by sensory neuronal hearing loss in both sexes and premature ovarian failure or infertility in females. Neurological and hearing loss symptoms appear early in life, but female infertility cannot be det...

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Detalles Bibliográficos
Autores principales: Dursun, Fatma, Mohamoud, Hussein Sheikh Ali, Karim, Noreen, Naeem, Muhammad, Jelani, Musharraf, Kırmızıbekmez, Heves
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198008/
https://www.ncbi.nlm.nih.gov/pubmed/27087618
http://dx.doi.org/10.4274/jcrpe.2717

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198008/
https://www.ncbi.nlm.nih.gov/pubmed/27087618
http://dx.doi.org/10.4274/jcrpe.2717

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