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Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

1 Oct 2012

Abstract excerpt

BACKGROUND: Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal condition that is a ciliopathy. MKS has marked phenotypic variability and genetic heterogeneity, with mutations in nine genes identified as causative to date. METHODS: Families diagnosed with Meckel-Gruber syndrome were recruited for research studies following informed consent. DNA samples were analyzed by microsatellite genotyping and...

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PMID: 23351400
DOI: 10.1186/2046-2530-1-18

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