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

doi:10.1016/j.ajhg.2012.04.004

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Article

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

American journal of human genetics - 4 May 2012

Bernier Francois P, Caluseriu Oana, Ng Sarah, Schwartzentruber Jeremy, Buckingham Kati J, Innes A Micheil, Jabs Ethylin Wang, Innis Jeffrey W, Schuette Jane L, Gorski Jerome L, Byers Peter H, Andelfinger Gregor, Siu Victoria, Lauzon Julie, Fernandez Bridget A, McMillin Margaret, Scott Richard H, Racher Hilary, Majewski Jacek, Nickerson Deborah A, Shendure Jay, Bamshad Michael J, Parboosingh Jillian S

Abstract excerpt

Nager syndrome, first described more than 60 years ago, is the archetype of a class of disorders called the acrofacial dysostoses, which are characterized by craniofacial and limb malformations. Despite intensive efforts, no gene for Nager syndrome has yet been identified. In an international collaboration, FORGE Canada and the National Institutes of Health Centers for Mendelian Genomics used exome sequencing as...

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Identifiers

PMID: 22541558
DOI: 10.1016/j.ajhg.2012.04.004
PMCID: PMC3376638

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