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- Search Terms:ISSN: 10614036AndISSN: 15461718AndVolume Number: 42AndIssue Number: 7AndStart Page: 619AndDate: 2010 Revise Search
- 1From: Nature Genetics. (Vol. 42, Issue 7) Peer-ReviewedJoubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an...