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Article

Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.

European journal of human genetics : EJHG - 1 Mar 2001

Horsley S W, Daniels R J, Anguita E, Raynham H A, Peden J F, Villegas A, Vickers M A, Green S, Waye J S, Chui D H, Ayyub H, MacCarthy A B, Buckle V J, Gibbons R J, Kearney L, Higgs D R

Abstract excerpt

We have examined the phenotypic effects of 21 independent deletions from the fully sequenced and annotated 356 kb telomeric region of the short arm of chromosome 16 (16p13.3). Fifteen genes contained within this region have been highly conserved throughout evolution and encode proteins involved in important housekeeping functions, synthesis of haemoglobin, signalling pathways and critical developmental pathways....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11313762
DOI: 10.1038/sj.ejhg.5200610

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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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