Article
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Human mutation - 1 Oct 2022
van Woerden Geeske M, Senden Richelle, de Konink Charlotte, Trezza Rossella A, Baban Anwar, Bassetti Jennifer A, van Bever Yolande, Bird Lynne M, van Bon Bregje W, Brooks Alice S, Guan Qiaoning, Klee Eric W, Marcelis Carlo, Rosado Joel M, Schimmenti Lisa A, Shikany Amy R, Terhal Paulien A, Nicole Weaver Kathryn, Wessels Marja W, van Wieringen Hester, Hurst Anna C, Gooch Catherine F, Steindl Katharina, Joset Pascal, Rauch Anita, Tartaglia Marco, Niceta Marcello, Elgersma Ype, Demirdas Serwet
Abstract excerpt
Mitogen-activated protein 3 kinase 7 (MAP3K7) encodes the ubiquitously expressed transforming growth factor β-activated kinase 1, which plays a crucial role in many cellular processes. Mutationsin the MAP3K7 gene have been linked to two distinct disorders: frontometaphyseal dysplasia type 2 (FMD2) and cardiospondylocarpofacial syndrome (CSCF). The fact that different mutations can induce two distinct phenotypes...
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