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

UNIQUE PRESENTATION OF OSTEOPETROSIS.

Journal of Ayub Medical College, Abbottabad : JAMC - 1 Jan 2000

Dharamshi Hasnain Abbas, Ahmed Syed Arsalan, Mohsin Ali Abbas, Mustahsan Syed Muhammad, Devi Reshma, Iqbal Anaam, Abidi Syed Muhammad All

Abstract excerpt

Osteopetrosis is a rare hereditary disorder of osteoclast dysfunction leading to abnormally dense and sclerotic bones that are fragile and break easily. It can be inherited in various patterns like autosomal-dominant, autosomal-recessive or as X-linked traits, but the most grievous forms of its inheritance are the autosomal-recessive ones, which show early onset and are associated with very poor prognosis. We...

Read the complete abstract on PubMed

Topics

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

Share to Asymptomatic Diseases
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Osteopetrosis

Share to Vacuolar Proton-Translocating ATPases

Source

Identifiers

PMID: 27323593

Genes

TCIRG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

UNIQUE PRESENTATION OF OSTEOPETROSIS.PMID 27323593Read ↗

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

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

Phenotype-autosomal recessive osteopetrosis.Semantic proximity Read ↗

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

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

Autosomal dominant osteopetrosis.Semantic proximity Read ↗

Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND.Semantic proximity Read ↗

Malignant Infantile osteopetrosis.Semantic proximity Read ↗

Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological AssociationsSemantic proximity Read ↗

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

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

Autosomal Dominant Osteopetrosis Type II.Semantic proximity Read ↗

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