Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3
Author:
Publisher
BMJ
Subject
Genetics (clinical),Genetics
Cited by 71 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum;Annals of Clinical and Translational Neurology;2024-06-21
2. Defects of Midbrain/Hindbrain Development: Defects of Anteroposterior and Dorsoventral Patterning;Journal of Pediatric Neurology;2024-05-29
3. Alzheimer’s disease and clinical trials;Journal of Basic and Clinical Physiology and Pharmacology;2024-01-01
4. Report of a Novel Homozygous Intragenic <i>DCC</i> Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome;Molecular Syndromology;2023-12-04
5. Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene;Molecular Genetics & Genomic Medicine;2023-06-18
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