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Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.

American journal of medical genetics - 11 Dec 1996

Bürger J, Kunze J, Sperling K, Reis A

Abstract excerpt

Angelman syndrome (AS) is a relatively frequent disorder of psychomotor development caused by loss of function of a gene from chromosome 15q11-q13, a region subject to genomic imprinting. The AS gene(s) is exclusively expressed from the maternal chromosome. Several kinds of mutations have been fo...

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Mutation
Phenotype
Chromosome Deletion
Case-Control Studies
Genomic Imprinting
Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Albinism, Oculocutaneous

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Identifiers

PMID: 8958335
DOI: 10.1002/(SICI)1096-8628(19961211)66:2<221::AID-AJMG19>3.0.CO;2-V

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-8958335-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.PMID 8958335Read ↗

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Atypical cases of Angelman syndrome.Semantic proximity Read ↗

[Genetic and clinical study on 17 cases of Angelman syndrome with deletion of 15q11-13].Semantic proximity Read ↗

Atypical features in Angelman syndrome due to imprinting defect of uniparental disomy of chromosome 15.Semantic proximity Read ↗

Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.Semantic proximity Read ↗

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