Associated Papers
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Michot C et al.
European Journal of Human Genetics : Ejhg, 2018
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.
Rhayem Y et al.
The Journal of Biological Chemistry, 2015
Novel mutations of the PRKAR1A gene in patients with acrodysostosis.
Muhn F et al.
Clinical Genetics, 2013
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