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., EREN Ş. F., ...Daha Fazla

GENETIC TESTING AND MOLECULAR BIOMARKERS, cilt.25, sa.6, ss.445-451, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 25 Sayı: 6
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1089/gtmb.2020.0311
  • Dergi Adı: GENETIC TESTING AND MOLECULAR BIOMARKERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.445-451
  • Anahtar Kelimeler: TCTN3, exome sequencing, novel mutation, CEP290, Meckel-Gruber Syndrome, JOUBERT SYNDROME, MUTATIONS, CILIOGENESIS, CEP290
  • Marmara Üniversitesi Adresli: Evet

Özet

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