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Article

Discovery of variants unmasked by hemizygous deletions.

European journal of human genetics : EJHG - 1 Jul 2012

Hochstenbach Ron, Poot Martin, Nijman Isaac J, Renkens Ivo, Duran Karen J, Van't Slot Ruben, van Binsbergen Ellen, van der Zwaag Bert, Vogel Maartje J, Terhal Paulien A, Ploos van Amstel Hans Kristian, Kloosterman Wigard P, Cuppen Edwin

Abstract excerpt

Array-based genome-wide segmental aneuploidy screening detects both de novo and inherited copy number variations (CNVs). In sporadic patients de novo CNVs are interpreted as potentially pathogenic. However, a deletion, transmitted from a healthy parent, may be pathogenic if it overlaps with a mut...

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Identifiers

PMID: 22258528
DOI: 10.1038/ejhg.2011.263
PMCID: PMC3376260

Genes

HSBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22258528-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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