Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature.


Turkyilmaz A. , Geckinli B. B. , Alavanda C., Arslan Ates E., Buyukbayrak E. E. , Eren S. F. , ...More

Genetic testing and molecular biomarkers, vol.25, pp.445-451, 2021 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25
  • Publication Date: 2021
  • Doi Number: 10.1089/gtmb.2020.0311
  • Title of Journal : Genetic testing and molecular biomarkers
  • Page Numbers: pp.445-451
  • Keywords: TCTN3, exome sequencing, novel mutation, CEP290, Meckel-Gruber Syndrome, JOUBERT SYNDROME, MUTATIONS, CILIOGENESIS, CEP290

Abstract

Background: Meckel-Gruber syndrome (MKS; OMIM No. 249000) is a rare, in utero lethal disease characterized by occipital encephalocele, polycystic kidneys, and polydactyly.