Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.

Irish journal of medical science - 1 May 2017

Hamzeh A R, Nair P, Mohamed M, Saif F, Tawfiq N, Al-Ali M T, Bastaki F

Abstract excerpt

BACKGROUND: Intellectual disability (ID) features in numerous heritable medical conditions that result from ATRX mutations. Alpha-thalassemia mental retardation syndrome (ATR-X syndrome) is the most notable manifestation of ATRX dysfunction. In addition to ID, genitourinary and craniofacial abnormalities are regularly observed with or without alpha-thalassemia. AIMS: The study sought to characterize two cases of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to alpha-Thalassemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATRX gene

Share to Heterozygote

Share to Infant

Share to Intellectual Disability

Share to Mutation, Missense

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 26860117
DOI: 10.1007/s11845-016-1418-6

Genes

ATRX
ATR

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.PMID 26860117Read ↗

Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.Semantic proximity Read ↗

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

ATR-X syndrome: genetics, clinical spectrum, and management.Semantic proximity Read ↗

[X-linked alpha-thalassemia/mental retardation syndrome].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 ↗

Mutations in the chromatin-associated protein ATRX.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 ↗

Alpha thalassaemia-mental retardation, X linked.Semantic proximity Read ↗

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 ↗

A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family.Semantic proximity Read ↗

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

Molecular-clinical spectrum of the ATR-X syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.