Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

doi:10.1002/humu.9489

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Article

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

Human mutation - 1 May 2007

Khaddour Rana, Smith Ursula, Baala Lekbir, Martinovic Jéléna, Clavering Davina, Shaffiq Rizwana, Ozilou Catherine, Cullinane Andrew, Kyttälä Mira, Shalev Stavit, Audollent Sophie, d'Humières Camille, Kadhom Noman, Esculpavit Chantal, Viot Géraldine, Boone Claire, Oien Christine, Encha-Razavi Férechté, Batman Philip A, Bennett Christopher P, Woods C Geoffrey, Roume Joelle, Lyonnet Stanislas, Génin Emmanuelle, Le Merrer Martine, Munnich Arnold, Gubler Marie-Claire, Cox Phillip, Macdonald Fiona, Vekemans Michel, Johnson Colin A, Attié-Bitach Tania

Abstract excerpt

Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations (typically occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in the portal area of the liver. MKS is genetically heterogeneous and three loci have been mapped respectively on 17q23 (MKS1), 11q13 (MKS2), and 8q24 (MKS3). Very...

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Identifiers

PMID: 17397051
DOI: 10.1002/humu.9489

Genes

MKS1
TMEM67

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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