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Article

Peters plus syndrome.

Indian journal of pediatrics - 1 Jun 2008

Kapoor Seema, Mukherjee Sharmila Banerjee, Arora Ritu, Shroff Daraius

Abstract excerpt

A 10-year-old boy, issue of unrelated parents presented with visual impairment, short stature and mental retardation. The presence of a Peters' anomaly, mental retardation, disproportionate short stature, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome. Analysis of his genomic DNA revealed a...

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Identifiers

PMID: 18759095
DOI: 10.1007/s12098-008-0122-6

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Peters plus syndrome.PMID 18759095Read ↗

Prenatal Diagnosis of Peters-Plus Syndrome: A Case ReportSemantic proximity Read ↗

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

Mutation analysis of B3GALTL in Peters Plus syndrome.Semantic proximity Read ↗

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

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

Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.Semantic proximity Read ↗

Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.Semantic proximity Read ↗

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 ↗

Ocular Phenotype of Peters-Plus Syndrome.Semantic proximity Read ↗

Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.Semantic proximity Read ↗

Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis.Semantic proximity Read ↗

Goltz syndrome: a rare case of father-to-daughter transmission.Semantic proximity Read ↗

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