A novel locus for autosomal recessive primary
microcephaly (MCPH6) maps to 13q12.2
Leal, G.F., Roberts, E., Silva, E.O. et al. (3 more authors)
(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
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.
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