Consanguineous‐derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia

Consanguineous‐derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia

Abstract 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...

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Bibliographic Details
Main Authors: Peng Chen, Jiaxi Chen, Zhantao Yang, Yang Lu, Liping Shen, Kai Zhou, Shenyi Ye, Bo Shen
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
congenital ptosis and exotropia
homozygous mutation
osteogenesis imperfect
WNT1
Online Access:https://doi.org/10.1002/mgg3.1350

Internet

https://doi.org/10.1002/mgg3.1350

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