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Article

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.

American journal of medical genetics. Part A - 1 Apr 2014

Martínez Francisco, Roselló Mónica, Mayo Sonia, Monfort Sandra, Oltra Silvestre, Orellana Carmen

Abstract excerpt

Here we report on two unrelated male patients with syndromic intellectual disability (ID) due to duplication at Xq13.3-q21.1, a region of about 6 Mb and 25 genes. Among these, the most outstanding is ATRX, the causative gene of X-linked alpha-thalassemia/mental retardation. ATRX belongs to the growing list of genes implied in chromatin remodeling causing ID. Many these genes, such as MECP2, are dose-sensitive so...

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Source

Identifiers

PMID: 24458433
DOI: 10.1002/ajmg.a.36371

Genes

ATRX
MECP2

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.PMID 24458433Read ↗

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