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

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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Abstract

Key points:

• 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.

Item Type: Article
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
Published Version: http://jmg.bmjjournals.com/cgi/content/full/40/7/5...
Status: Published
Refereed: Yes
Identification Number: 10.1136/jmg.40.7.540
URI: http://eprints.whiterose.ac.uk/id/eprint/246

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