Article
Consanguineous-derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia.
Molecular genetics & genomic medicine - 1 Aug 2020
Chen Peng, Chen Jiaxi, Yang Zhantao, Lu Yang, Shen Liping, Zhou Kai, Ye Shenyi, Shen Bo
Abstract excerpt
BACKGROUND: Wnt signaling pathway plays an important role in promoting ostergenesis. WNT1 mutations have been considered as a major cause of ostergenesis imperfect (OI). We identified an OI patient with pathogenic consanguineous-derived homozygous WNT1 missense mutation. METHODS: We designed and applied a panel of known 261 genes associated with hereditary bone diseases for targeted next-generation sequencing to...
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