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Article

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

Clinical genetics - 1 Sept 2014

Petit F, Escande F, Jourdain A S, Porchet N, Amiel J, Doray B, Delrue M A, Flori E, Kim C A, Marlin S, Robertson S P, Manouvrier-Hanu S, Holder-Espinasse M

Abstract excerpt

Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified the SF3B4 gene as the cause of this condition in most patients. SF3B4 encodes a highly conserved protein implicated in mRNA splicing and bone morphogenic protein (BMP) signaling. We performed SF3B4 sequencing in 14 families...

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Identifiers

PMID: 24003905
DOI: 10.1111/cge.12259

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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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