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

Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.

Clinical genetics - 1 Apr 2026

Elhady Ghada, Amin Asmaa K, Iturrate Asier, El-Dessouky Sara, Nevado Julian, Campos-Xavier Belinda, Matsa Lova S, Giunta Cecilia, Lapunzina Pablo, Ruiz-Perez Victor L, Abdalla Ebtesam

Abstract excerpt

Osteogenesis imperfecta (OI) is a genetically heterogeneous connective tissue disorder marked by bone fragility and deformities. This study aimed to define the clinical and molecular characteristics of 21 OI patients from 15 unrelated Egyptian families. Most probands were analyzed by exome sequencing. In three consanguineous cases, variants were identified through SNP array-based homozygosity mapping followed by...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type I
Share to Collagen Type I, alpha 1 Chain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cyclic AMP Response Element-Binding Protein

Share to Extracellular Matrix Proteins

Share to Osteogenesis Imperfecta

Share to Proteoglycans

Share to Wnt1 Protein

Source

Identifiers

PMID: 41090974
DOI: 10.1111/cge.70091

Genes

COL1A1
COL1A2
CRTAP
P3H1
SEC24D
WNT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.PMID 41090974Read ↗

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

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

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

Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.Semantic proximity Read ↗

The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.Semantic proximity Read ↗

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

Molecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience.Semantic proximity Read ↗

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype CorrelationSemantic 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 ↗

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaSemantic proximity Read ↗

Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.Semantic proximity Read ↗

Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta.Semantic proximity Read ↗

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