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Article

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.

PLoS genetics - 1 Sept 2016

Marques Felipe, Tenney Jessica, Duran Ivan, Martin Jorge, Nevarez Lisette, Pogue Robert, Krakow Deborah, Cohn Daniel H, Li Bing

Abstract excerpt

The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a severe, usually perinatal lethal AFD, characterized by severe retrognathia, oligodactyly and lower limb abnormalities. Rodriguez syndrome has been proposed to be a severe form of Nager syndrome, a non-lethal AFD that results from mutations in SF3B4, a...

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Source

Open in PubMed Open full text

Identifiers

PMID: 27622494
DOI: 10.1371/journal.pgen.1006307
PMCID: PMC5021280

Genes

DLX5
DLX6
SOX6
SOX9

Provenance

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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Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.PMID 27622494Read ↗

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