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Article

PTBP3 Associated With 9q32 Locus Is a Candidate Gene for Nager Syndrome.

Birth defects research - 1 Aug 2025

Gonzalez Jose Antonio, Devotta Arun, Hong Chang-Soo, Griffin Casey, Saint-Jeannet Jean-Pierre

Abstract excerpt

BACKGROUND: Mandibulofacial dysostosis (MFD) is a congenital disorder characterized by defects in facial bones of neural crest origin. Nager syndrome combines many features of MFD with limb defects. Mutations in SF3B4, a gene located on chromosome 1 that encodes a protein of the spliceosome, were identified as a cause for Nager syndrome in approximately 60% of patients. METHODS: A region of chromosome 9 (9q32)...

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Share to Chromosomes, Human, Pair 9
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polypyrimidine Tract-Binding Protein

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Source

Identifiers

PMID: 40820387
DOI: 10.1002/bdr2.2518

Genes

PTBP3
SF3B4
PRPF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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PTBP3 Associated With 9q32 Locus Is a Candidate Gene for Nager Syndrome.PMID 40820387Read ↗

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Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse.Semantic proximity Read ↗

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

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.Semantic proximity Read ↗

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

<i>Sf3b4</i> mutation in <i>Xenopus tropicalis</i> causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest developmentSemantic proximity Read ↗

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A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.Semantic proximity Read ↗

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

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