A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.

@article{Rajab2003ANF,
  title={A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.},
  author={Anna Rajab and Ganeshwaran Hitoshi Mochida and Andrew Hill and Vijaya L Ganesh and Adria L Bodell and Ayesha Riaz and P. Ellen Grant and Yin Yao Shugart and Christopher A. Walsh},
  journal={Neurology},
  year={2003},
  volume={60 10},
  pages={1664-7}
}
OBJECTIVE To describe a novel form of pontocerebellar hypoplasia (PCH) and map its genetic locus. BACKGROUND PCH is a heterogeneous group of disorders that are characterized by abnormally small cerebellum and brainstem. Autosomal recessive inheritance has been implied in many cases, but no genetic loci have been mapped to date. METHODS The authors studied a consanguineous family from the Sultanate of Oman with three siblings with a novel form of PCH. The authors performed clinical studies… CONTINUE READING

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