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Article

1p31.1 microdeletion including only NEGR1 gene in two patients.

European journal of medical genetics - 1 Jun 2020

Tassano Elisa, Uccella Sara, Giacomini Thea, Fiorio Patrizia, Tavella Elisa, Malacarne Michela, Gimelli Giorgio, Coviello Domenico, Ronchetto Patrizia

Abstract excerpt

Neuronal growth regulator 1 (NEGR1), a member of the immunoglobulin superfamily cell adhesion molecule subgroup IgLON, has been involved in neuronal growth and connectivity. Genetic variants, in or near the NEGR1 locus, have been associated with obesity and, more recently, with learning difficulties, intellectual disability, and psychiatric disorders. Here, we described the only second report of NEGR1 gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32209393
DOI: 10.1016/j.ejmg.2020.103919

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