TUBB3 M323V Syndrome Presents with Infantile Nystagmus

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 malformations of cortical development. Herein, we report a case of a 6-month-old infant with c.967A>G:p.(M323V) variant in the TUBB3 gene, who had only in...

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Detalles Bibliográficos
Autores principales: Jin, Soohwa, Park, Sung-Eun, Won, Dongju, Lee, Seung-Tae, Han, Sueng-Han, Han, Jinu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8071555/
https://www.ncbi.nlm.nih.gov/pubmed/33921132
http://dx.doi.org/10.3390/genes12040575

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8071555/
https://www.ncbi.nlm.nih.gov/pubmed/33921132
http://dx.doi.org/10.3390/genes12040575

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