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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 S...

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Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24715698-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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

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