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Article

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2015

Gandin Ilaria, Faletra Flavio, Faletra Francesca, Carella Massimo, Pecile Vanna, Ferrero Giovanni B, Biamino Elisa, Palumbo Pietro, Palumbo Orazio, Bosco Paolo, Romano Corrado, Belcaro Chiara, Vozzi Diego, d'Adamo Adamo P

Abstract excerpt

PURPOSE: The harmful effects of inbreeding are well known by geneticists, and several studies have already reported cases of intellectual disability caused by recessive variants in consanguineous families. Nevertheless, the effects of inbreeding on the degree of intellectual disability are still poorly investigated. Here, we present a detailed analysis of the homozygosity regions in a cohort of 612 patients with...

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Identifiers

PMID: 25232855
DOI: 10.1038/gim.2014.118

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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