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Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
J Med Genet. 2003 Dec;40(12):e128. doi: 10.1136/jmg.40.12.e128.
J Med Genet. 2003.
PMID: 14684696
Free PMC article.
No abstract available.
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.
Kondoh T, Okamoto N, Norimatsu N, Uetani M, Nishimura G, Moriuchi H.
Kondoh T, et al.
J Hum Genet. 2007;52(4):370-373. doi: 10.1007/s10038-007-0108-7. Epub 2007 Jan 31.
J Hum Genet. 2007.
PMID: 17264970
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