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Article

[Nager syndrome associated with tetralogy of Fallot: A frequent association?].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Sept 2015

Bellanger C, Villedieu F, Gerard M, Guillois B

Abstract excerpt

Nager syndrome belongs to a heterogeneous group of disorders involving abnormal development of the extremities, face, and jaw: acrofacial dysostosis (AFD). Fewer than 100 cases of Nager syndrome have been reported to date. Recently, mutations in the 1q21.2 region of the SF3B4 gene (splicing factor 3B subunit 4), which encodes a spliceosomal protein (SAP49) involved in the assembly of the spliceosomal complex...

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Source

Identifiers

PMID: 26228803
DOI: 10.1016/j.arcped.2015.06.002

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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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