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

SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta – A study of 18 patients from India

26 May 2023

Abstract excerpt

gene variants leading to severe progressive deforming OI, the largest series in the world to date. These patients were normal at birth and had the first fracture between 2 months to 9 years; progression of deformities was seen in 12 adolescents who became nonambulatory. Radiologically, compression fractures with kyphoscoliosis, protrusio acetabuli, and lytic lesions in the metaphysis and pelvis were seen in older...

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 Vitamin K Research Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37425194
DOI: 10.1016/j.bonr.2023.101690

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta – A study of 18 patients from IndiaPMID 37425194Read ↗

Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.Semantic proximity Read ↗

Rare homozygous SERPINF1 pathogenic variant causing autosomal recessive osteogenesis imperfecta type VI in two unrelated Ecuadorian familiesSemantic proximity Read ↗

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.Semantic proximity Read ↗

Molecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in Carriers.Semantic proximity Read ↗

Mutations in SERPINF1 cause osteogenesis imperfecta type VI.Semantic proximity Read ↗

What is new in genetics and osteogenesis imperfecta classification?Semantic proximity Read ↗

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

Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI.Semantic proximity Read ↗

Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.Semantic proximity Read ↗

Osteogenesis imperfecta—pathophysiology and therapeutic optionsSemantic proximity Read ↗

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.Semantic proximity Read ↗

Osteogenesis Imperfecta Type VI in Individuals from Northern Canada.Semantic proximity Read ↗

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