Leal, G.F., Roberts, E., Silva, E.O., Costa, S.M.R., Hampshire, D.J. and Woods, C.G. (2003) A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. Journal of Medical Genetics, 40 (7). pp. 540-542. ISSN 0022-2593
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• Autosomal recessive primary microcephaly (MCPH) is a genetic disorder in which an affected subject is born with a head circumference >3 SD below the expected mean and is mentally retarded.
• We report a novel locus (MCPH6) mapped to chromosome 13q12.2 in a Brazilian family.
• The minimal critical region spans 6 Mb between markers AL139378GT17 and D13S1244 with a maximum two point lod score of 6.25.
|Copyright, Publisher and Additional Information:||© 2003 BMJ Publishing Group|
|Institution:||The University of Leeds|
|Academic Units:||The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Genetics (Leeds)|
|Depositing User:||Sherpa Assistant|
|Date Deposited:||13 Mar 2006|
|Last Modified:||05 Jun 2014 04:53|