Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia

Donnai-Barrow syndrome (DBS) is a rare autosomal recessive disorder caused by mutation in the low density lipoprotein receptor-related protein 2 gene (LRP2). Defects in this protein may lead to clinical multiple organ malformations by affecting the development of organs such as the nervous system, e...

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Detalles Bibliográficos
Autores principales: Yuan, Shiqin, Huang, Xiaoyu, Zhang, Shuang, Yang, Shangying, Rui, Xue, Qi, Xiaolong, Wang, Xuhui, Zheng, Yali, Rong, Weining, Sheng, Xunlun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911814/
https://www.ncbi.nlm.nih.gov/pubmed/36777721
http://dx.doi.org/10.3389/fgene.2023.1107347

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