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Article

Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?

American journal of medical genetics. Part A - 1 Jul 2014

McPherson Elizabeth, Zaleski Christina, Ye Zhan, Lin Simon

Abstract excerpt

We report on the findings of a novel heterozygous de novo SF3B4 mutation in a long-surviving patient with clinical features of Rodriguez syndrome including severe acrofacial dysostosis, phocomelia with pre- and post-axial limb defects, fibular agenesis, rib, and shoulder girdle anomalies. Since SF3B4 mutations have been recently associated with Nager syndrome, this suggests that at least some cases of Rodriguez...

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Identifiers

PMID: 24715698
DOI: 10.1002/ajmg.a.36555

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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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Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?PMID 24715698Read ↗

Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.Semantic proximity Read ↗

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.Semantic proximity Read ↗

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SF3B4 Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome.Semantic proximity Read ↗

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

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.Semantic proximity Read ↗

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.Semantic proximity Read ↗

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Rodriguez syndrome with an SF3B4 gene mutation: A case reportSemantic proximity Read ↗

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