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

Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.

European journal of medical genetics - 1 Jan 2000

Souraty Noëlle, Noun Peter, Djambas-Khayat Claudia, Chouery Eliane, Pangrazio Alessandra, Villa Anna, Lefranc Gérard, Frattini Annalisa, Mégarbané André

Abstract excerpt

Autosomal recessive osteopetrosis is a severe hereditary bone disease whose cellular basis is in the osteoclast, but with heterogeneous molecular defects. We hereby report the clinical and the molecular study of seven patients affected by the recessive form of osteopetrosis (ARO) from six families originating from the Middle-East: four from Lebanon and two from Syria. Parental consanguinity was found in five...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lebanon

Share to Osteopetrosis

Share to RNA Splicing

Share to Ubiquitin-Protein Ligases

Share to Vacuolar Proton-Translocating ATPases

Source

Identifiers

PMID: 17400532
DOI: 10.1016/j.ejmg.2007.01.005

Genes

OSTM1
TCIRG1

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

Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.PMID 17400532Read ↗

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.Semantic proximity Read ↗

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

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

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

Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families.Semantic proximity Read ↗

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

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.Semantic proximity Read ↗

Genetics of Osteopetrosis.Semantic proximity Read ↗

Phenotype-autosomal recessive osteopetrosis.Semantic proximity Read ↗

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.Semantic proximity Read ↗

Osteopetrosis: Pathogenesis, Clinical Management, and Emerging Therapies.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 ↗

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