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

Turkyilmaz, AYBERK; Geckinli, Bilgen; Alavanda, Ceren; Arslan Ates, Esra; Buyukbayrak, Esra; Eren, Sirin; Arman, Ahmet

doi:10.1089/gtmb.2020.0311

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, Scopus)

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.