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Article

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

American journal of human genetics - 1 Sept 2006

Lesnik Oberstein Saskia A J, Kriek Marjolein, White Stefan J, Kalf Margot E, Szuhai Karoly, den Dunnen Johan T, Breuning Martijn H, Hennekam Raoul C M

Abstract excerpt

Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, and developmental delay. After detection of a microdeletion by array-based comparative genomic hybridization, we identified biallelic truncating mutations in the beta 1,3-galactosyltransferase-like gene (B3GALTL) in all 20 tested patients, showing that Peters Plus is a...

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Identifiers

PMID: 16909395
DOI: 10.1086/507567
PMCID: PMC1559553

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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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Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.PMID 16909395Read ↗

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Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.Semantic proximity Read ↗

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Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats.Semantic proximity Read ↗

<i>In Silico</i> Analysis of <i>B3GALTL</i> Gene Reveling 13 Novel Mutations Associated with Peters’-plus syndromeSemantic proximity Read ↗

Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.Semantic proximity Read ↗

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