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 ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family.

Molecular medicine reports - 1 Jan 2020

Li Liangshan, Yu Jing, Zhang Xiao, Han Mengmeng, Liu Wenmiao, Li Hui, Liu Shiguo

Abstract excerpt

Smith‑Fineman‑Myers syndrome (SFMS) is a rare inherited disorder characterized mainly by mental retardation and anomalies in the appearance of patients. SFMS is caused by a mutation in the α‑thalassemia/mental retardation syndrome X‑linked (ATRX) gene and has an X‑linked recessive pattern. In the present study, a novel ATRX mutation was identified, and the association between its genotype and the phenotype was...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Exome
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Heterozygote

Share to Intellectual Disability

Share to Pedigree

Share to X-linked Nuclear Protein

Source

Identifiers

PMID: 31746429
DOI: 10.3892/mmr.2019.10818

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family.PMID 31746429Read ↗

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

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

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 ↗

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

Identification of novel ATRX mutations in Chinese patients with ATRX syndrome related intellectual disability/developmental delaySemantic proximity Read ↗

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

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

Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China.Semantic proximity Read ↗

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.Semantic proximity Read ↗

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