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Article

B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.

Clinical genetics - 1 Jun 2020

Staretz-Chacham Orna, Noyman Iris, Wormser Ohad, Abu Quider Abed, Hazan Guy, Morag Iris, Hadar Noam, Raymond Kimiyo, Birk Ohad S, Ferreira Carlos R, Koifman Arie

Abstract excerpt

A congenital disorder of glycosylation due to biallelic mutations in B4GALT1 has been previously reported in only three patients with two different mutations. Through homozygosity mapping followed by segregation analysis in an extended pedigree, we identified three additional patients homozygous for a novel mutation in B4GALT1, expanding the phenotypic spectrum of the disease. The patients showed a uniform...

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PMID: 32157688
DOI: 10.1111/cge.13735

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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