The First Mutation Identified in a Chinese Acrodysostosis Patient Confirms a p.G289E Variation of PRKAR1A Causes Acrodysostosis

Acrodysostosis is a rare skeletal dysplasia, which has not been reported previously in patients of Chinese origin. The PRKAR1A gene and PDE4D gene have been found to be causative genes of acrodysostosis. A Chinese girl with acrodysostosis and concomitant multiple hormone resistance was recruited for...

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Detalles Bibliográficos
Autores principales: Li, Nan, Nie, Min, Li, Mei, Jiang, Yan, Xing, Xiaoping, Wang, Ou, Li, Chunlin, Xia, Weibo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159793/
https://www.ncbi.nlm.nih.gov/pubmed/25075981
http://dx.doi.org/10.3390/ijms150813267

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159793/
https://www.ncbi.nlm.nih.gov/pubmed/25075981
http://dx.doi.org/10.3390/ijms150813267

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