Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene

Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene

Abstract Background Homozygous or compound heterozygous ROBO3 gene mutations cause horizontal gaze palsy with progressive scoliosis (HGPPS). This is an autosomal recessive disorder that is characterized by congenital absence or severe restriction of horizontal gaze and progressive scoliosis. To date...

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Bibliographic Details
Main Authors: Sheng Yi, Zailong Qin, Xunzhao Zhou, Junjie Chen, Shang Yi, Qiuli Chen, Limei Huang, Qinle Zhang, Biyan Chen, Jingsi Luo
Format: Article
Language:English
Published: Wiley 2023-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
allele frequency
HGPPS
noncanonical splicing site
ROBO3
screening strategy
Online Access:https://doi.org/10.1002/mgg3.2215

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