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Article

A review of craniofacial disorders caused by spliceosomal defects.

Clinical genetics - 1 Nov 2015

Lehalle D, Wieczorek D, Zechi-Ceide R M, Passos-Bueno M R, Lyonnet S, Amiel J, Gordon C T

Abstract excerpt

The spliceosome is a large ribonucleoprotein complex that removes introns from pre-mRNA transcripts. Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by mandibulofacial dysostosis, microcephaly, external ear malformations and intellectual disability. Mutations in several other...

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Source

Identifiers

PMID: 25865758
DOI: 10.1111/cge.12596

Genes

EFTUD2
SNRPB

Provenance

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