ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant genetic disorder, and mutations in the forkhead box L2 (FOXL2) gene are one of the major genetic causes. As this study shows, there are many patients with BPES who do not have FOXL2 mutations, as the screening r...

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Detalles Bibliográficos
Autores principales: Cheng, Tianling, Yuan, Xiaobin, Yuan, Shaopeng, Zhu, Jianying, Tang, Shengjian, Zhang, Yujie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8665901/
https://www.ncbi.nlm.nih.gov/pubmed/34966851
http://dx.doi.org/10.1515/biol-2021-0129

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8665901/
https://www.ncbi.nlm.nih.gov/pubmed/34966851
http://dx.doi.org/10.1515/biol-2021-0129

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