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

Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease

15 Oct 2019

Abstract excerpt

Osteogenesis imperfecta(OI), mainly caused by structural abnormalities of type I collagen, is a hereditary rare disease characterized by increased bone fragility and reduced bone mass. Clinical manifestations of OI mostly include multiple repeated bone fractures, thin skin, blue sclera, hearing loss, cardiovascular and pulmonary system abnormalities, triangular face, dentinogenesis imperfecta (DI) and walking...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Dental Protein Studies
Share to Connective tissue disorders research
Share to Protease and Inhibitor Mechanisms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31680973
DOI: 10.3389/fphar.2019.01200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta DiseasePMID 31680973Read ↗

Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I CollagenSemantic proximity Read ↗

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis ImperfectaSemantic proximity Read ↗

Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.Semantic proximity Read ↗

Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta.Semantic proximity Read ↗

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfectaSemantic proximity Read ↗

Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.Semantic proximity Read ↗

Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring systemSemantic proximity Read ↗

Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.Semantic proximity Read ↗

[Comprehensive considerations for the diagnosis, treatment, and management of osteogenesis imperfecta].Semantic proximity Read ↗

Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfectaSemantic proximity Read ↗

Update on the Genetics of Osteogenesis Imperfecta.Semantic proximity Read ↗

Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counselingSemantic proximity Read ↗

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