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Article

Clinical and genetic heterogeneity in Meckel syndrome.

Human genetics - 1 Nov 1997

Paavola P, Salonen R, Baumer A, Schinzel A, Boyd P A, Gould S, Meusburger H, Tenconi R, Barnicoat A, Winter R, Peltonen L

Abstract excerpt

Meckel syndrome (MKS) is a lethal malformation syndrome characterised by posterior meningoencephalocele, polycystic kidneys, fibrotic changes of the liver, and polydactyly. We have previously shown a linkage to chromosome 17q in 17 Finnish Meckel families. In this study we have analysed one Italian, one Austrian (of Turkish origin) and three British MKS families (Caucasian, Pakistani, and Bangladeshi families)...

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Identifiers

PMID: 9385376
DOI: 10.1007/s004390050592

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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