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Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature
Genetic Testing and Molecular Biomarkers  (IF1.795),  Pub Date : 2021-06-16, DOI: 10.1089/gtmb.2020.0311
Ayberk Turkyilmaz, Bilgen Bilge Geckinli, Ceren Alavanda, Esra Arslan Ates, Esra Esim Buyukbayrak, Sirin Funda Eren, Ahmet Arman

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