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

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.

Human molecular genetics - 1 Dec 2001

Cleiren E, Bénichou O, Van Hul E, Gram J, Bollerslev J, Singer F R, Beaverson K, Aledo A, Whyte M P, Yoneyama T, deVernejoul M C, Van Hul W

Abstract excerpt

Albers-Schönberg disease, or autosomal dominant osteopetrosis, type II (ADO II), is the most common form of osteopetrosis, a group of conditions characterized by an increased skeletal mass due to impaired bone and cartilage resorption. Following the assignment of the gene causing ADO II to chromosome 16p13.3, we now report seven different mutations in the gene encoding the ClCN7 chloride channel in all 12 ADO II...

Read the complete abstract on PubMed

Topics

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

Share to Chloride Channels
Share to Chromosomes, Human, Pair 16

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Osteopetrosis

Share to Peptide Fragments

Share to Radiography

Share to Sequence Homology, Amino Acid

Share to Two-Hybrid System Techniques

Source

Identifiers

PMID: 11741829
DOI: 10.1093/hmg/10.25.2861

Genes

ADO

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

Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.PMID 11741829Read ↗

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.Semantic proximity Read ↗

Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.Semantic proximity Read ↗

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.Semantic proximity Read ↗

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive 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 ↗

A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.Semantic proximity Read ↗

Autosomal dominant osteopetrosis.Semantic proximity Read ↗

Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.Semantic proximity Read ↗

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.Semantic proximity Read ↗

A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient.Semantic proximity Read ↗

Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.Semantic proximity Read ↗

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

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