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Mutations in <i>TMEM231</i> cause Meckel–Gruber syndrome

24 Jan 2013

Abstract excerpt

BACKGROUND: Meckel-Gruber syndrome (MKS) is a genetically heterogeneous severe ciliopathy characterised by early lethality, occipital encephalocele, polydactyly, and polycystic kidney disease. PURPOSE: To report genetic analysis results in two families in which all known MKS diseases genes have been excluded. METHODS: In two consanguineous families with classical MKS in which autozygome-guided sequencing of...

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PMID: 23349226
DOI: 10.1136/jmedgenet-2012-101431

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