A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype

Lignende værker

• Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure
  af: Criscione, June, et al.
  Udgivet: (2019)
• A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant
  af: Hiromi Nyuzuki, et al.
  Udgivet: (2024-02-01)
• Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum
  af: Kiraly-Borri, Catherine, et al.
  Udgivet: (2019)
• Neonatal dilated cardiomyopathy and cardiospondylocarpofacial syndrome linked to a novel MAP3K7 gene mutation
  af: Bibhuti B. Das, et al.
  Udgivet: (2025-01-01)
• Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome
  af: Le Goff, Carine, et al.
  Udgivet: (2016)