Molecular characterization of Beckwith-Wiedemann syndrome (BWS) patients with partial duplication of chromosome 11p excludes the gene MYOD1 from the BWS region.

doi:10.1016/0888-7543(90)90256-t

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Article

Molecular characterization of Beckwith-Wiedemann syndrome (BWS) patients with partial duplication of chromosome 11p excludes the gene MYOD1 from the BWS region.

Genomics - 1 Dec 1990

Weksberg R, Glaves M, Teshima I, Waziri M, Patil S, Williams B R

Abstract excerpt

The molecular characterization of two patients with features of Beckwith-Wiedemann syndrome (BWS) and chromosome abnormalities is consistent with the association of this phenotype with a duplication of a portion of chromosome 11. Quantitative Southern blot analysis of DNA from patient A defines a large inherited duplicated segment of chromosome 11. For patient B, a de novo duplication of unknown origin has been...

Topics

Beckwith-Wiedemann Syndrome
Blotting, Southern
Calcitonin
Cell Line
Chromosome Aberrations
Chromosome Mapping
Chromosomes, Human, Pair 11
Genes
Hemoglobins
Humans
Insulin-Like Growth Factor II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle Proteins

MyoD Protein

Nuclear Proteins

Parathyroid Hormone

Phenotype

Phosphoproteins

Source

Open in PubMed

Identifiers

PMID: 2276740
DOI: 10.1016/0888-7543(90)90256-t

Genes

MYOD1
CALCA
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2276740-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Molecular characterization of Beckwith-Wiedemann syndrome (BWS) patients with partial duplication of chromosome 11p excludes the gene MYOD1 from the BWS region.PMID 2276740Read ↗

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