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Article

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.

Genes - 27 Apr 2021

Catusi Ilaria, Garzo Maria, Capra Anna Paola, Briuglia Silvana, Baldo Chiara, Canevini Maria Paola, Cantone Rachele, Elia Flaviana, Forzano Francesca, Galesi Ornella, Grosso Enrico, Malacarne Michela, Peron Angela, Romano Corrado, Saccani Monica, Larizza Lidia, Recalcati Maria Paola

Abstract excerpt

To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 suggested a critical region (CR) of 2.1 Mb including several genes, out of which FBXO25, DLGAP2, CLN8, ARHGEF10 and MYOM2 are the main candidates. Here we present seven...

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Identifiers

PMID: 33925474
DOI: 10.3390/genes12050652
PMCID: PMC8146486

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