Acrodysostosis type 1: mechanisms explaining PRKAR1A mutation mediated dysregulation of cAMP-PKA signalling
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Acrodysostosis type 1 (ACRDYS1) is a rare multisystem developmental disorder affecting skeletal growth, endocrine function, neurodevelopment, metabolism, and tooth formation. It is caused by heterozygous mutations in PRKAR1A, which encodes the type Iα regulat... ...
