GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment

Multiple synostoses syndrome type 4 (SYNS4; MIM 617898) is an autosomal dominant disorder characterized by carpal-tarsal coalition and otosclerosis-associated hearing loss. SYSN4 has been associated with GDF6 gain-of-function mutations. Here we report a five-generation SYNS4 family with a reduction...

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Detalles Bibliográficos
Autores principales: Clarke, Raymond A., Fang, Zhiming, Murrell, Dedee, Sheriff, Tabrez, Eapen, Valsamma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470939/
https://www.ncbi.nlm.nih.gov/pubmed/34573339
http://dx.doi.org/10.3390/genes12091354

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470939/
https://www.ncbi.nlm.nih.gov/pubmed/34573339
http://dx.doi.org/10.3390/genes12091354

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