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Article

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.

American journal of human genetics - 12 Nov 2010

Shlien Adam, Baskin Berivan, Achatz Maria Isabel W, Stavropoulos Dimitrios J, Nichols Kim E, Hudgins Louanne, Morel Chantal F, Adam Margaret P, Zhukova Nataliya, Rotin Lianne, Novokmet Ana, Druker Harriet, Shago Mary, Ray Peter N, Hainaut Pierre, Malkin David

Abstract excerpt

DNA copy-number variations (CNVs) underlie many neuropsychiatric conditions, but they have been less studied in cancer. We report the association of a 17p13.1 CNV, childhood-onset developmental delay (DD), and cancer. Through a screen of over 4000 patients with diverse diagnoses, we identified ei...

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Identifiers

PMID: 21056402
DOI: 10.1016/j.ajhg.2010.10.007
PMCID: PMC2978979

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21056402-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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