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Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.

Human molecular genetics - 15 Oct 2017

Briet Claire, Pereda Arrate, Le Stunff Catherine, Motte Emmanuelle, de Dios Garcia-Diaz Juan, de Nanclares Guiomar Perez, Dumaz Nicolas, Silve Caroline

Abstract excerpt

Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia characterized by short stature, severe brachydactyly and facial dysostosis, is caused by mutations in the phosphodiesterase (PDE) 4D (PDE4D) gene. Several arguments suggest that the mutations should result in inappropriately increased PDE4D activity, however, no direct evidence supporting this hypothesis has been presented, and the...

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PMID: 29016851
DOI: 10.1093/hmg/ddx271

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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