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.
- Woods, C.G.
DOIAbstract
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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