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Article

Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.

Journal of clinical research in pediatric endocrinology - 15 Dec 2017

Hoppmann Julia, Gesing Julia, Silve Caroline, Leroy Chrystel, Bertsche Astrid, Hirsch Franz Wolfgang, Kiess Wieland, Pfäffle Roland, Schuster Volker

Abstract excerpt

Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in protein kinase type 1-α...

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Identifiers

PMID: 28515031
DOI: 10.4274/jcrpe.4488
PMCID: PMC5785644

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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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Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.PMID 28515031Read ↗

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Exome sequencing identifies PDE4D mutations in acrodysostosis.Semantic proximity Read ↗

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A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.Semantic proximity Read ↗

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The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.Semantic proximity Read ↗

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