Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.

Abstract excerpt

Cardiospondylocarpofacial syndrome (CSCF; OMIM#157800) is characterized by growth impairment, failure to thrive in infancy, multiple valvular disease, carpal and tarsal fusions, vertebral fusions, and joint hypermobility. It is caused by pathogenic variants of MAP3K7, which encodes transforming growth factor-β activated kinase 1 (TAK1), a member of the mitogen-activated protein kinase kinase kinase family...

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