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Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly

✍ Scribed by Arun Kumar; Satish C. Girimaji; Mahesh R. Duvvari; Susan H. Blanton


Book ID
113422602
Publisher
American Society of Human Genetics
Year
2009
Tongue
English
Weight
464 KB
Volume
84
Category
Article
ISSN
0002-9297

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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