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