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Article

Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation.

American journal of medical genetics - 15 Jun 2002

Etzioni Amos, Sturla Laura, Antonellis Anthony, Green Eric D, Gershoni-Baruch Ruth, Berninsone Patricia M, Hirschberg Carlos B, Tonetti Michela

Abstract excerpt

Leukocyte adhesion deficiency (LAD) type II is a rare autosomal recessive syndrome characterized by recurrent infections, typical dysmorphic features, the Bombay blood phenotype and severe growth and psychomotor retardation. It is attributed to a general absence of fucosylated glycans on the cell surface. Three Arab Israeli patients and one Turkish child have been reported so far. The primary defect in a specific...

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PMID: 12116250
DOI: 10.1002/ajmg.10423

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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