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Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature.
Genet Test Mol Biomarkers. 2021 Jun;25(6):445-451. doi: 10.1089/gtmb.2020.0311. Epub 2021 Jun 4.
Genet Test Mol Biomarkers. 2021.
PMID: 34096792
Review.
Background: Meckel-Gruber syndrome (MKS; OMIM No. 249000) is a rare, in utero lethal disease characterized by occipital encephalocele, polycystic kidneys, and polydactyly. ...Using exome sequencing analyses a novel homozygous frameshift variant (NM_015631: c.530delA …
Background: Meckel-Gruber syndrome (MKS; OMIM No. 249000) is a rare, in utero lethal disease characterized by occipital enceph …
New Insights into Cystic Kidney Diseases.
Mochizuki T, Makabe S, Aoyama Y, Kataoka H, Nitta K.
Mochizuki T, et al.
Contrib Nephrol. 2018;195:31-41. doi: 10.1159/000486932. Epub 2018 May 7.
Contrib Nephrol. 2018.
PMID: 29734148
Review.
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