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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Detalles Bibliográficos
Autores principales: Chen, Peng, Chen, Jiaxi, Yang, Zhantao, Lu, Yang, Shen, Liping, Zhou, Kai, Ye, Shenyi, Shen, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434602/
https://www.ncbi.nlm.nih.gov/pubmed/32529806
http://dx.doi.org/10.1002/mgg3.1350

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434602/
https://www.ncbi.nlm.nih.gov/pubmed/32529806
http://dx.doi.org/10.1002/mgg3.1350

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