Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia

Gnathodiaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-osseous lesions of jawbones, bone fragility, and diaphyseal sclerosis of tubular bones. To date, only five mutations in the proposed calcium-activated chloride channel ANO5/TMEM16E gene have be...

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Detalles Bibliográficos
Autores principales: Jin, Lingling, Liu, Yi, Sun, Fanyue, Collins, Michael T., Blackwell, Keith, Woo, Albert S., Reichenberger, Ernst J., Hu, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5296836/
https://www.ncbi.nlm.nih.gov/pubmed/28176803
http://dx.doi.org/10.1038/srep40935

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5296836/
https://www.ncbi.nlm.nih.gov/pubmed/28176803
http://dx.doi.org/10.1038/srep40935

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