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Article

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

Human mutation - 1 Aug 2009

Tallila Jonna, Salonen Riitta, Kohlschmidt Nicolai, Peltonen Leena, Kestilä Marjo

Abstract excerpt

Meckel syndrome (MKS) is a lethal malformation syndrome that belongs to the group of disorders that are associated with primary cilia dysfunction. Total of five genes are known to be involved in the molecular background of MKS. Here we have systematically analyzed all these genes in a total of 29 MKS families. Seven of the families were Finnish and the rest originated from elsewhere in Europe. We found 12 novel...

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Identifiers

PMID: 19466712
DOI: 10.1002/humu.21057
PMCID: PMC2718326

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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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