Phenotype-Based Genetic Analysis Reveals Missing Heritability of <i>KIF11</i>-Related Retinopathy: Clinical and Genetic Findings

Phenotype-Based Genetic Analysis Reveals Missing Heritability of <i>KIF11</i>-Related Retinopathy: Clinical and Genetic Findings

The purpose of this study was to detect the missing heritability of patients with <i>KIF11</i>-related retinopathy and to describe their clinical and genetic characteristics. We enrolled 10 individuals from 7 unrelated families harboring a pathogenic monoallelic variant in <i>KIF11...

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Bibliographic Details
Main Authors: Haoyu Chang, Xin Zhang, Ke Xu, Nien Li, Yue Xie, Weiyu Yan, Yang Li
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
<i>KIF11</i>
deep intronic variant
minigene assay
microcephaly with or without chorioretinopathy
lymphedema
or mental retardation
Online Access:https://www.mdpi.com/2073-4425/14/1/212

Internet

https://www.mdpi.com/2073-4425/14/1/212

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