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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

✍ Scribed by Valente, Enza Maria; Silhavy, Jennifer L; Brancati, Francesco; Barrano, Giuseppe; Krishnaswami, Suguna Rani; Castori, Marco; Lancaster, Madeline A; Boltshauser, Eugen; Boccone, Loredana; Al-Gazali, Lihadh

Book ID: 109919373
Publisher: Nature Publishing Group
Year: 2006
Tongue: English
Weight: 299 KB
Volume: 38
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1805

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## Communicated by Iain McIntosh Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Recently, genes for MKS1 and MKS3 wer