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

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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Bibliographic Details
Main Authors: Nan Li, Min Nie, Mei Li, Yan Jiang, Xiaoping Xing, Ou Wang, Chunlin Li, Weibo Xia
Format: Article
Language:English
Published: MDPI AG 2014-07-01
Series:International Journal of Molecular Sciences
Subjects:
rare skeletal dysplasia
Chinese
the cyclic AMP (cAMP) signaling
hormone resistance
PRKAR1A
Online Access:http://www.mdpi.com/1422-0067/15/8/13267

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http://www.mdpi.com/1422-0067/15/8/13267

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