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Article

A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2017

Terrone Gaetano, Vitiello Giuseppina, Genesio Rita, D'Amico Alessandra, Imperati Floriana, Ugga Lorenzo, Giugliano Teresa, Piluso Giulio, Nitsch Lucio, Brunetti-Pierri Nicola, Del Giudice Ennio

Abstract excerpt

BACKGROUND: SHANK3 mutations are responsible for Phelan-McDermid syndrome but they are also associated with autism and/or intellectual disability. CASE REPORT: We report a family with four affected individuals including the 37 year-old mother, her 12 year-old male monozygotic twins and 8 year-old daughter harboring a novel SHANK3 interstitial microdeletion. All four members presented with intellectual disability...

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Identifiers

PMID: 28754298
DOI: 10.1016/j.ejpn.2017.07.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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