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Article

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

Molecular and cellular biology - 1 May 2003

Walz Katherina, Caratini-Rivera Sandra, Bi Weimin, Fonseca Patricia, Mansouri Dena L, Lynch Jennifer, Vogel Hannes, Noebels Jeffrey L, Bradley Allan, Lupski James R

Abstract excerpt

Contiguous gene syndromes (CGS) are a group of disorders associated with chromosomal rearrangements of which the phenotype is thought to result from altered copy numbers of physically linked dosage-sensitive genes. Smith-Magenis syndrome (SMS) is a CGS associated with a deletion within band p11.2 of chromosome 17. Recently, patients harboring the predicted reciprocal duplication product [dup(17)(p11.2p11.2)] have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12724422
DOI: 10.1128/MCB.23.10.3646-3655.2003
PMCID: PMC154242

Genes

SMS

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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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