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Article

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

Human mutation - 1 May 2003

Borgione Eugenia, Sturnio Maurizio, Spalletta Angela, Angela Lo Giudice Maria, Castiglia Lucia, Galesi Ornella, Ragusa Angela, Fichera Marco

Abstract excerpt

Molecular defects affecting the ATRX gene lead to the ATRX syndrome (alpha thalassemia/mental retardation syndrome, X-linked), characterized by severe mental retardation, microcephaly, distinct facial dysmorphism, and genital abnormalities, as well as a wide spectrum of other pathological features. Alpha thalassemia is frequent but does not represent a constant characteristic of the syndrome. An expanding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12673795
DOI: 10.1002/humu.10183

Genes

ATRX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.PMID 12673795Read ↗

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ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.Semantic proximity Read ↗

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From pathology to therapy: A comprehensive review of ATRX mutation related molecular functions and disorders.Semantic proximity Read ↗

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.Semantic proximity Read ↗

X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.Semantic proximity Read ↗

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New heritable ATRX mutation identified by whole exome sequencing and reviewSemantic proximity Read ↗

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