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Article

3p interstitial deletion including PRICKLE2 in identical twins with autistic features.

Pediatric neurology - 1 Nov 2014

Okumura Akihisa, Yamamoto Toshiyuki, Miyajima Masakazu, Shimojima Keiko, Kondo Satoshi, Abe Shinpei, Ikeno Mitsuru, Shimizu Toshiaki

Abstract excerpt

BACKGROUND: Microdeletion and microduplication syndromes without characteristic dysmorphic features are difficult to diagnose without chromosomal microarrays. PATIENTS: We describe the clinical course and genetic findings of monozygotic twins with intellectual disabilities and autistic features associated with mild facial dysmorphism and microdeletion of chromosome 3p14. RESULTS: The postnatal course of the...

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Source

Identifiers

PMID: 25193415
DOI: 10.1016/j.pediatrneurol.2014.07.025

Genes

PRICKLE2
ATXN7
FEZF2
MAGI1
SYNPR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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