Associated Papers
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
van Woerden GM et al.
Human Mutation, 2022
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
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
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Wade EM et al.
American Journal of Medical Genetics. Part A, 2017
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Wade EM et al.
American Journal of Human Genetics, 2016
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