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Article

Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.

American journal of medical genetics. Part A - 1 Jun 2017

Barone Rita, Fichera Marco, De Grandi Mariaclara, Battaglia Marta, Lo Faro Valeria, Mattina Teresa, Rizzo Renata

Abstract excerpt

Deletion of 18q12.2 is an increasingly recognized condition with a distinct neuropsychiatric phenotype. Twenty-two patients have been described with overlapping neurobehavioral disturbances including developmental delay, intellectual disability of variable degree, seizures, motor coordination disorder, behavioral/emotional disturbances, and autism spectrum disorders. The CUGBP Elav-like family member 4 (CELF4)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28407444
DOI: 10.1002/ajmg.a.38205

Genes

CELF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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