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., ...Daha Fazla

Genetic testing and molecular biomarkers, cilt.25, ss.445-451, 2021 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 25
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
Karadeniz Teknik 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.