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

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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Bibliographic Details
Main Authors: Shiqin Yuan, Xiaoyu Huang, Shuang Zhang, Shangying Yang, Xue Rui, Xiaolong Qi, Xuhui Wang, Yali Zheng, Weining Rong, Xunlun Sheng
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Genetics
Subjects:
Donnai-Barrow syndrome
early-onset high myopia
compound heterozygous variation
clinical features
genetic assessment
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1107347/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1107347/full

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