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Article

Acrodysostosis.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Sept 2012

Silve C, Clauser E, Linglart A

Abstract excerpt

Acrodysostosis refers to a group of rare skeletal dysplasias that share in common characteristic clinical and radiological features including brachydactyly, facial dysostosis, and nasal hypoplasia. In the past, the term acrodysostosis has been used to describe patients with heterogeneous phenotypes, including, in some cases, patients that today would be given alternative diagnoses. The recent finding that...

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Share to Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
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Source

Identifiers

PMID: 22815067
DOI: 10.1055/s-0032-1316330

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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