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WY Li, MY Wang, R Zhou, SY Wang, HC Zheng, HP Zhu, ZB Zhou, T Wu, H Wang and B Shi
Abstract
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect, affecting 1.4 per 1 000 live births, and multiple genetic and environmental risk factors influencing its risk. All the known genetic risk factors accounted for a small proportion of the heritability. Several authors have suggested parent-of-origin effects (PoO) may play an important role in the etiology of this complex and heterogeneous malformation. To clarify the genetic association between PTCH1, PTCH2, SHH and SMO in hedgehog (HH) pathway and NSCL/P, as well as testing for potential PoO effects in Chinese case-parent trios.
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MeSH headings
Asian Continental Ancestry Group, Cleft Lip, Cleft Palate, Genome-Wide Association Study, Hedgehog Proteins, Humans, Patched-2 Receptor, Smoothened Receptor
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