Fucosidosis with Pathogenic Variant in FUCA1 Gene

Indian J Pediatr. 2020 Oct;87(10):867-868. doi: 10.1007/s12098-020-03246-7. Epub 2020 Mar 3.

Authors

Vykuntaraju K Gowda¹, Varunvenkat M Srinivasan², Hemadri Vegda², Maya Bhat³

Affiliations

¹ Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India. [email protected].
² Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
³ Department of Neuroradiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.

PMID: 32125660
DOI: 10.1007/s12098-020-03246-7

No abstract available

Publication types

Letter

MeSH terms

Child, Preschool
Consanguinity
Female
Fucosidosis* / diagnosis
Fucosidosis* / genetics
Humans
Male
Mutation
alpha-L-Fucosidase / genetics*

Substances

FUCA1 protein, human
alpha-L-Fucosidase