Associated Papers
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
Wurfbain LF et al.
Molecular Syndromology, 2023
Case report: "Major fetal cardiac pathology associated with a novel CTNND1 mutation".
Zhao X et al.
Frontiers in Pediatrics, 2023
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Alharatani R et al.
Human Molecular Genetics, 2020
Clinical spectrum and pleiotropic nature of CDH1 germline mutations.
Figueiredo J et al.
Journal of Medical Genetics, 2019
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
Kievit A et al.
European Journal of Human Genetics : Ejhg, 2018
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