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

Novel mutation in a family with WNT1-related osteoporosis.

European journal of medical genetics - 1 Jul 2018

Panigrahi Inusha, Didel Siyaram, Kirpal Harita, Bellampalli Ravishankara, Miyanath Shabna, Mullapudi Nandita, Rao Sudha

Abstract excerpt

Osteogenesis imperfecta (OI) is an inherited disorder with osteoporosis and recurrent fractures. Children presenting with recurrent fractures and bowing of limbs have severe form of the disorder. Patients carrying homozygous WNT1 mutations have more frequent fractures while heterozygous carriers of the mutation in WNT1 gene are also found to have early onset osteoporosis. We identified a family with novel WNT1...

Read the complete abstract on PubMed

Topics

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

Share to Bone Density Conservation Agents
Share to Diphosphonates

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fractures, Bone

Share to Genetic Variation

Share to Imidazoles

Share to Infant

Share to Osteogenesis Imperfecta

Share to Wnt1 Protein

Source

Identifiers

PMID: 29481978
DOI: 10.1016/j.ejmg.2018.01.017

Genes

WNT1
BMP1
CRTAP
SERPINH1

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

Novel mutation in a family with WNT1-related osteoporosis.PMID 29481978Read ↗

Mutations in WNT1 are a cause of osteogenesis imperfectaSemantic proximity Read ↗

Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.Semantic proximity Read ↗

Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants in a Large Cohort of Patients With OI/Osteoporosis.Semantic proximity Read ↗

Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.Semantic proximity Read ↗

Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.Semantic proximity Read ↗

Mutations in WNT1 cause different forms of bone fragility.Semantic proximity Read ↗

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults.Semantic proximity Read ↗

Osteoporosis Caused by Monoallelic Variant of WNT1 Gene in Four Pediatric Patients.Semantic proximity Read ↗

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.Semantic proximity Read ↗

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

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.Semantic proximity Read ↗

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

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