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

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.

Molecular genetics & genomic medicine - 1 Nov 2021

Liang Huanhuan, Li Niu, Yao Ru-En, Yu Tingting, Ding Lixia, Chen Jing, Wang Jian

Abstract excerpt

BACKGROUND: Osteopetrosis is characterized by increased bone density and bone marrow cavity stenosis due to a decrease in the number of osteoclasts or the dysfunction of their differentiation and absorption properties usually caused by biallelic variants of the TCIRG1 and CLCN7 genes. METHODS: In this study, we describe five Chinese children who presented with anemia, thrombocytopenia, hepatosplenomegaly,...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Chloride Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Infant

Share to Mutation

Share to Osteopetrosis

Share to Vacuolar Proton-Translocating ATPases

Source

Open in PubMed Open full text

Identifiers

PMID: 34545712
DOI: 10.1002/mgg3.1815
PMCID: PMC8606217

Genes

TCIRG1
CLCN7

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

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.PMID 34545712Read ↗

The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.Semantic proximity Read ↗

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive 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 ↗

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

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.Semantic proximity Read ↗

Case report of mild TCIRG1-associated autosomal recessive osteopetrosis in Vietnam.Semantic proximity Read ↗

Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.Semantic proximity Read ↗

Autosomal recessive osteopetrosis type I: description of pathogenic variant of TCIRG1 gene.Semantic proximity Read ↗

A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family.Semantic proximity Read ↗

Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.Semantic proximity Read ↗

Genetics, pathogenesis and complications of osteopetrosis.Semantic proximity Read ↗

A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene.Semantic proximity Read ↗

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