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Article

[Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].

Biologie aujourd'hui - 1 Jan 2016

Silve Caroline

Abstract excerpt

Acrodysostosis refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism...

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Share to Cyclic AMP
Share to Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
Share to Cyclic Nucleotide Phosphodiesterases, Type 4

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27813477
DOI: 10.1051/jbio/2016018

Genes

PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].PMID 27813477Read ↗

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