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

SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Jan 2021

Zhou Ting, Zeng Caixia, Xi Qiong, Yang Zuocheng

Abstract excerpt

A case of SNX10 gene mutation in a patient with infantile malignant osteopetrosis (IMO) was admitted to Department of Pediatrics, Third Xiangya Hospital, Central South University. The patient had the symptom of anemia, hepatosplenomegaly and growth retardation. The X-ray examination suggested extensive increase of bone density throughout the body, which was clinically diagnosed as IMO. The homozygous mutation of...

Read the complete abstract on PubMed

Topics

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

Share to Bone Density
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hematopoietic Stem Cell Transplantation

Share to Mutation

Share to Osteopetrosis

Share to Sorting Nexins

Source

Open in PubMed Open full text

Identifiers

PMID: 33678645
DOI: 10.11817/j.issn.1672-7347.2021.190322
PMCID: PMC10878291

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

SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review.PMID 33678645Read ↗

A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients.Semantic proximity Read ↗

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.Semantic proximity Read ↗

Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis.Semantic proximity Read ↗

Osteopetrosis: Pathogenesis, Clinical Management, and Emerging Therapies.Semantic proximity Read ↗

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclastsSemantic proximity Read ↗

Malignant Infantile Osteopetrosis.Semantic proximity Read ↗

A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.Semantic proximity Read ↗

Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis.Semantic proximity Read ↗

One Disease, Many Genes: Implications for the Treatment of OsteopetrosesSemantic proximity Read ↗

Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report.Semantic proximity Read ↗

Autosomal dominant osteopetrosis.Semantic proximity Read ↗

Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds.Semantic proximity Read ↗

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