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Article

The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.

International journal of molecular sciences - 29 Jul 2014

Li Nan, Nie Min, Li Mei, Jiang Yan, Xing Xiaoping, Wang Ou, Li Chunlin, Xia Weibo

Abstract excerpt

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 our study. Clinical and biochemical characters were analyzed. DNA was extracted from leukocytes and was sequenced...

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Identifiers

PMID: 25075981
DOI: 10.3390/ijms150813267
PMCID: PMC4159793

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GNAS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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