Article
The PDE-Opathies: Diverse Phenotypes Produced by a Functionally Related Multigene Family.
Trends in genetics : TIG - 1 Jul 2021
Bolger Graeme B
Abstract excerpt
The phosphodiesterase (PDE)-opathies, an expanding set of disorders caused by germline mutations in cyclic nucleotide PDEs, present an intriguing paradox. The enzymes encoded by the PDE family all hydrolyze cAMP and/or cGMP, but mutations in different family members produce very divergent phenotypes. Three interacting factors have been shown recently to contribute to this phenotypic diversity: (i) the 21 genes...
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