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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 25
  • Publication Date: 2021
  • Doi Number: 10.1089/gtmb.2020.0311
  • Journal Name: Genetic testing and molecular biomarkers
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.445-451
  • Keywords: TCTN3, exome sequencing, novel mutation, CEP290, Meckel-Gruber Syndrome, JOUBERT SYNDROME, MUTATIONS, CILIOGENESIS, CEP290
  • Karadeniz Technical University Affiliated: Yes

Abstract

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