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Article

Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.

EMBO molecular medicine - 1 Jun 2014

Bonora Elena, Graziano Claudio, Minopoli Fiorella, Bacchelli Elena, Magini Pamela, Diquigiovanni Chiara, Lomartire Silvia, Bianco Francesca, Vargiolu Manuela, Parchi Piero, Marasco Elena, Mantovani Vilma, Rampoldi Luca, Trudu Matteo, Parmeggiani Antonia, Battaglia Agatino, Mazzone Luigi, Tortora Giada, Maestrini Elena, Seri Marco, Romeo Giovanni

Abstract excerpt

Intellectual disability (ID) and autism spectrum disorders (ASDs) are complex neuropsychiatric conditions, with overlapping clinical boundaries in many patients. We identified a novel intragenic deletion of maternal origin in two siblings with mild ID and epilepsy in the CADPS2 gene, encoding for...

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Source

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Identifiers

PMID: 24737869
DOI: 10.1002/emmm.201303235
PMCID: PMC4203356

Genes

CADPS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24737869-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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