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A novel locus for autosomal recessive primary\ud microcephaly (MCPH6) maps to 13q12.2

By G.F. Leal, E. Roberts, E.O. Silva, S.M.R. Costa, D.J. Hampshire and C.G. Woods

Abstract

Key points:\ud \ud \ud • Autosomal recessive primary microcephaly (MCPH) is a\ud genetic disorder in which an affected subject is born\ud with a head circumference >3 SD below the expected\ud mean and is mentally retarded.\ud \ud \ud • We report a novel locus (MCPH6) mapped to chromosome\ud 13q12.2 in a Brazilian family.\ud \ud \ud • The minimal critical region spans 6 Mb between markers\ud AL139378GT17 and D13S1244 with a maximum\ud two point lod score of 6.25

Year: 2003
OAI identifier: oai:eprints.whiterose.ac.uk:246

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