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Micro and Martsolf syndromes are rare clinically and genetically overlapping disorders caused by mutations in RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. We describe 34 new patients, 27 with Micro and seven with Martsolf. Patients presented with the characteristic clinical manifestations of the two syndromes, including postnatal microcephaly, congenital cataracts, microphthalmia, optic atrophy, spasticity...
Variants of vitamin D receptor (VDR) and toll like receptors (TLR) have been investigated in relation to colon cancer (CC) susceptibility, however results were always inconsistent. Methods: We examined the association of CC risk with four variants VDR rs2228570 (FokI), VDR rs11568820 (Cdx2) and Asp299Gly (rs4986790) and Asp399Ile (rs4986791) in TLR4. rs11568820 was assessed by allele specific-multiplex...
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