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Article

Genomic and clinical characteristics of microduplications in chromosome 17.

American journal of medical genetics. Part A - 1 May 2010

Shchelochkov Oleg A, Cheung S W, Lupski J R

Abstract excerpt

Genomic disorders have been increasingly recognized as a significant source of clinically relevant phenotypes largely fostered by advances in technologies for genome-wide analyses. Molecular and clinical studies of copy number variants involving chromosome 17 began with locus-specific studies of Charcot-Marie-Tooth disease type 1A (CMT1A, OMIM #118220) and hereditary neuropathy with liability to pressure palsies...

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Share to Abnormalities, Multiple
Share to Chromosome Aberrations
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20425816
DOI: 10.1002/ajmg.a.33248

Provenance

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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