Ontology highlight
ABSTRACT:
SUBMITTER: Tammachote R
PROVIDER: S-EPMC2733821 | biostudies-other | 2009 Sep
REPOSITORIES: biostudies-other
Tammachote Rachaneekorn R Hommerding Cynthia J CJ Sinders Rachel M RM Miller Caroline A CA Czarnecki Peter G PG Leightner Amanda C AC Salisbury Jeffrey L JL Ward Christopher J CJ Torres Vicente E VE Gattone Vincent H VH Harris Peter C PC
Human molecular genetics 20090610 17
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 associated with MKS1 and MKS3, and the published ciliary data are conflicting. Analysis of t ...[more]