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Article

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.

Brain & development - 1 Jun 2016

Pinto Anna Maria, Bianciardi Laura, Mencarelli Maria Antonietta, Imperatore Valentina, Di Marco Chiara, Furini Simone, Suppiej Agnese, Salviati Leonardo, Tenconi Romano, Ariani Francesca, Mari Francesca, Renieri Alessandra

Abstract excerpt

BACKGROUND: Neurodevelopmental disorders include a broad spectrum of conditions, which are characterized by delayed motor and/or cognitive milestones and by a variable range of intellectual disability with or without an autistic behavior. Several genetic factors have been implicated in intellectual disability onset and exome sequencing studies have recently identified new inherited or de novo mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26754451
DOI: 10.1016/j.braindev.2015.12.006

Genes

CHD2
MECP2

Provenance

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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Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.PMID 26754451Read ↗

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