TUBB3 M323V Syndrome Presents with Infantile Nystagmus

Jin, S; Park, SE; Won, D; Lee, ST; Han, SH; Han, J

Han, J (corresponding author), Yonsei Univ, Gangnam Severance Hosp, Inst Vis Res, Dept Ophthalmol,Coll Med, Seoul 06273, South Korea.

GENES, 2021; 12 (4):

Abstract

Variants in the TUBB3 gene, one of the tubulin-encoding genes, are known to cause congenital fibrosis of the extraocular muscles type 3 and/or malform......

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