Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation

Ophthalmic Genet. 2020 Feb;41(1):99-100. doi: 10.1080/13816810.2020.1727537. Epub 2020 Feb 20.

Authors

Poornima Narayanan Nambiar¹, Santha Kumar S², Ramshekhar Menon¹, Sruthi S Nair¹, G K Madhavilatha³, Soumya Sundaram¹

Affiliations

¹ Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
² Department of Imaging Sciences and Intervention Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
³ Department of Genetic Counselling, MedGenome Labs Ltd, Bangalore, India.

PMID: 32077773
DOI: 10.1080/13816810.2020.1727537

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child
Female
Humans
Infant
Male
Mutation*
Ophthalmoplegia, Chronic Progressive External / genetics
Ophthalmoplegia, Chronic Progressive External / pathology*
Receptors, Cell Surface / genetics*
Scoliosis / genetics
Scoliosis / pathology*
Siblings

Substances

ROBO3 protein, human
Receptors, Cell Surface

Supplementary concepts

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis