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Meckel syndrome

Dysencephalia splanchnocysticaMeckel-Gruber syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Meckel syndrome" returned 4 free, full-text review articles. First few results:
Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
Last Updated: Mar 19, 2019

Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related ...

Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.
Last Updated: Oct 08, 2019

The ciliopathies are a group of related inherited diseases characterized by malformations in organ development. The diseases affect multiple organ systems, with kidney, skeleton, and brain malformations frequently observed. Research over the last decade has revealed that these diseases ...

Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Last Updated: Nov 19, 2009

Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Meckel syndrome" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Meckel syndrome" returned 52 free, full-text research articles. First few results:
Meckel syndrome: Clinical and mutation profile in six fetuses.
Last Updated: Aug 31, 2020

Meckel syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomal recessive condition caused by defective primary cilium formation leading to polydactyly, multiple cysts in kidneys and malformations of nervous system. We performed exome sequencing in six fetuses ...

Meckel-Gruber Syndrome: A Case Who Lived for 5 Months.
Last Updated: Jan 23, 2020

The Meckel-Gruber syndrome is a rare, congenital, and lethal malformation characterized by typical manifestations such as encephalocele, polycystic kidneys, and polydactyly. Herein, we present a case of a patient with the typical triad as well as facial, ocular, liver, and genital ...

A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.
Last Updated: Apr 20, 2020

Meckel-Gruber syndrome (MKS) is a well-known rare disease that can be detected on prenatal ultrasound. Meckel-Gruber syndrome has very heterogeneous etiology; at least, 17 genes have been described in association with MKS. The characteristic findings in fetuses affected by MKS are ...

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52 Free Research Articles 150 Research Articles