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


TÜRKYILMAZ A., GEÇKİNLİ B. B. , ALAVANDA C., Ates E. A. , Buyukbayrak E. E. , EREN Ş. F. , ...More

GENETIC TESTING AND MOLECULAR BIOMARKERS, vol.25, pp.445-451, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • 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
  • Marmara 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.