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Article

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.

Human molecular genetics - 1 Sept 2009

Tammachote Rachaneekorn, Hommerding Cynthia J, Sinders Rachel M, Miller Caroline A, Czarnecki Peter G, Leightner Amanda C, Salisbury Jeffrey L, Ward Christopher J, Torres Vicente E, Gattone Vincent H, Harris Peter C

Abstract excerpt

Meckel syndrome (MKS) is a lethal disorder characterized by renal cystic dysplasia, encephalocele, polydactyly and biliary dysgenesis. It is highly genetically heterogeneous with nine different genes implicated in this disorder. MKS is thought to be a ciliopathy because of the range of phenotypes and localization of some of the implicated proteins. However, limited data are available about the phenotypes...

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Source

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Identifiers

PMID: 19515853
DOI: 10.1093/hmg/ddp272
PMCID: PMC2733821

Genes

MKS1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.PMID 19515853Read ↗

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