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Article

Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.

European journal of medical genetics - 1 Jul 2018

Barrie Elizabeth S, Li Yu, Lamb-Thrush Devon, Hashimoto Sayaka, Matthews Theodora, Mouhlas Danielle, Pyatt Robert, Reshmi Shalini C, Gastier-Foster Julie M, Pfau Ruthann, Astbury Caroline

Abstract excerpt

PURPOSE: While chromosomal regions of homozygosity (ROH) may implicate genes in known recessive disorders, their correlation to disease pathogenicity remains unclear. ROH around the centromere of the X chromosome (pericentromeric, pROH) is regarded as benign, although this has not been empirically demonstrated. METHODS: We examined microarray results from 122 female individuals harboring ROH bordering the X...

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PMID: 29572065
DOI: 10.1016/j.ejmg.2018.02.008

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FGD1

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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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