Associated Papers
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Schuermans N et al.
Orphanet Journal of Rare Diseases, 2022
Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.
Minatogawa M et al.
American Journal of Medical Genetics. Part A, 2022
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.
Micale L et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype.
AbuBakr F et al.
Cold Spring Harbor Molecular Case Studies, 2020
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.
Morlino S et al.
European Journal of Human Genetics : Ejhg, 2018
Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
Le Goff C et al.
American Journal of Human Genetics, 2016
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