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

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, almost...

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Detalles Bibliográficos
Autores principales: Yi, Sheng, Qin, Zailong, Zhou, Xunzhao, Chen, Junjie, Yi, Shang, Chen, Qiuli, Huang, Limei, Zhang, Qinle, Chen, Biyan, Luo, Jingsi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496041/
https://www.ncbi.nlm.nih.gov/pubmed/37330975
http://dx.doi.org/10.1002/mgg3.2215

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496041/
https://www.ncbi.nlm.nih.gov/pubmed/37330975
http://dx.doi.org/10.1002/mgg3.2215

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