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

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 app...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Chen, Peng, Chen, Jiaxi, Yang, Zhantao, Lu, Yang, Shen, Liping, Zhou, Kai, Ye, Shenyi, Shen, Bo
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7434602/
https://ncbi.nlm.nih.gov/pubmed/32529806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1350
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