Novel variants and phenotypes of <i>ROBO3</i> gene associated with horizontal gaze palsy with progressive scoliosis-Reference-Cited by-同舟云学术

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Novel variants and phenotypes of ROBO3 gene associated with horizontal gaze palsy with progressive scoliosis

Published:2024-02 Issue:1 Volume:8 Page:72-74
ISSN:2574-2272
Container-title:Pediatric Investigation
language:en
Short-container-title:Pediatric Investigation

Author:

Xie Yan¹^ORCID,Huang Lijuan²,Zhou Yunyu¹,Wu Jin³,Li Ningdong¹²⁴⁵

Affiliation:

1. Department of Ophthalmology Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China

2. Department of Ophthalmology The Second Affiliated Hospital of Fujian Medical University Fujian China

3. Department of Ophthalmology Shenzhen Children's Hospital Guangdong China

4. Department of Ophthalmology Shanghai General Hospital Shanghai China

5. Department of Ophthalmology Children's Hospital Capital Institute of Pediatrics Beijing China

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ped4.12414

Reference10 articles.

1. Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

2. Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family

3. Biallelic mutations in human DCC cause developmental split-brain syndrome

4. A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis‐2 with impaired intellectual development

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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