Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.

@article{Kumar2009MutationsIS,
  title={Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.},
  author={Arun Kumar and Satish Chandra Girimaji and Mahesh R Duvvari and Susan Halloran Blanton},
  journal={American journal of human genetics},
  year={2009},
  volume={84 2},
  pages={286-90}
}
Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized by smaller-than-normal brain size and mental retardation. MCPH is genetically heterogeneous with six known loci: MCPH1-MCPH6. We report mapping of a novel locus, MCPH7, to chromosome 1p32.3-p33 between markers D1S2797 and D1S417, corresponding to a physical distance of 8.39 Mb. Heterogeneity analysis of 24 families previously excluded from linkage to the six known MCPH loci suggested linkage of five families… CONTINUE READING
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