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Article

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

European journal of medical genetics - 1 Aug 2016

Bader Ingrid, Decker E, Mayr J A, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O

Abstract excerpt

Joubert syndrome (JS) is a clinically and genetically heterogeneous ciliopathy characterized by episodic hyperpnea and apnea, hypotonia, ataxia, cognitive impairment and ocular motor apraxia. The "molar tooth sign" is pathognomonic of this condition. Mutations in the MKS1 gene are a major cause of Meckel-Gruber syndrome (MKS), the most common form of syndromic neural tube defects, frequently resulting in...

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Source

Identifiers

PMID: 27377014
DOI: 10.1016/j.ejmg.2016.06.007

Genes

MKS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.PMID 27377014Read ↗

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