Meckel-Gruber Syndrome: A Case Report at RHUH
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Geriatric Oncology"
DOI: 10.11648/j.jgo.20200804.17
Abstract: A rare lethal autosomal recessive condition called Meckel-Gruber Syndrome (MGS) has a clinical and genetical heterogenicity. A 15-year-old primigravid presented at the 16th gestational week of her pregnancy at the Rafic Hariri University Hospital (RHUH)… read more here.
Keywords: report rhuh; meckel gruber; gruber syndrome; syndrome case ... See more keywords
The First Reported Case of Meckel–Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric and Developmental Pathology"
DOI: 10.1177/1093526616689184
Abstract: Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes… read more here.
Keywords: mosaic trisomy; gruber syndrome; case; meckel gruber ... See more keywords
Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.982127
Abstract: Ciliopathies are a class of inherited severe human disorders that occur due to defective formation or function of cilia. The RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein1-like) gene encodes for a ciliary protein involved in regulating… read more here.
Keywords: meckel gruber; rpgrip1l; gruber syndrome; analysis ... See more keywords