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Article

Novel mutations in the FUCA1 gene that cause fucosidosis.

Genetics and molecular research : GMR - 16 Sept 2016

Panmontha W, Amarinthnukrowh P, Damrongphol P, Desudchit T, Suphapeetiporn K, Shotelersuk V

Abstract excerpt

Fucosidosis is a rare lysosomal storage disorder inherited in an autosomal recessive manner. Its estimated frequency is below 1 in 200,000 live births. Its clinical phenotypes include progressive neurological and mental deterioration, coarse facial features, growth retardation, visceromegaly, angiokeratomas, and seizures. The disease is caused by mutations in the FUCA1 gene that lead to deficiency of...

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Identifiers

PMID: 27706744
DOI: 10.4238/gmr.15038733

Genes

FUCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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