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Article

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

European journal of human genetics : EJHG - 1 Apr 2018

Morlino Silvia, Castori Marco, Dordoni Chiara, Cinquina Valeria, Santoro Graziano, Grammatico Paola, Venturini Marina, Colombi Marina, Ritelli Marco

Abstract excerpt

Heterozygous variants in MAP3K7, encoding the transforming growth factor-β-activated kinase 1 (TAK1), are associated with the ultrarare cardiospondylocarpofacial syndrome (CSCFS). Specific gain-of-function variants in the same gene cause the allelic frontometaphyseal dysplasia type 2. Phenotypic series of frontometaphyseal dysplasia also comprise variants in FLNA (type 1) and two patients with a heterozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29467388
DOI: 10.1038/s41431-017-0079-x
PMCID: PMC5891500

Genes

FLNA
TAB2

Provenance

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