• A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting
• An unusual case of stapes fixation
• Congenital heart disease, deafness, and skeletal malformations: a new syndrome?
• Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7
• Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant
• Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome
• Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy
• The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations