Acrodysostosis
Definition:
Acrodysostosis (ACRDYS) is a rare autosomal dominant condition characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and intellectual impairment. Recently, mutations in PRKAR1A have been identified in individuals with acrodysostosis and resistance to multiple hormones. And it has been reported that PDE4D mutations are another cause of acrodysostosis. PDE4D regulates cAMP concentration.
References:
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[1]. Agnès Linglart, et al. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med. 2011 Jun 9;364(23):2218-26. [Content Brief]
[2]. Caroline Michot, et al. Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet. 2012 Apr 6;90(4):740-5. [Content Brief]
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