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 testing is useful in adults with limited phenotypes of genetic skeletal conditions.

Bone - 1 May 2020

Cottard Marie, Vignot Emmanuelle, Fontanges Elisabeth, Merle Blandine, Collet Corinne, Chapurlat Roland

Abstract excerpt

We show the value of genetic screening in 3 adults with limited phenotypes of three bone sclerosing genetic disease (GD): osteopetrosis (OPT), Camurati-Engelmann disease (CED) and pycnodysostosis. INTRODUCTION: OPT, CED and pycnodysostosis are three rare bone diseases often diagnosed in childhood. However, some atypical phenotypes raise the problem of delayed diagnosis in adults. Genetic tests may then be useful...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Bones
Share to Child
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Osteopetrosis

Share to Phenotype

Source

Identifiers

PMID: 31899347
DOI: 10.1016/j.bone.2019.115218

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

Genetic testing is useful in adults with limited phenotypes of genetic skeletal conditions.PMID 31899347Read ↗

Genetic diseases of bones and joints.Semantic proximity Read ↗

Genetics of Osteopetrosis.Semantic proximity Read ↗

Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders.Semantic proximity Read ↗

Autosomal dominant osteopetrosis.Semantic proximity Read ↗

Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis.Semantic proximity Read ↗

Nosology and classification of genetic skeletal disorders: 2010 revision.Semantic proximity Read ↗

Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological AssociationsSemantic proximity Read ↗

Phenotype-autosomal recessive osteopetrosis.Semantic proximity Read ↗

Pathogenic Gene Variants Identified in Patients Presenting With Perthes or Perthes-like Hip Disorder.Semantic proximity Read ↗

Heritable sclerosing bone disorders: presentation and new molecular mechanisms.Semantic proximity Read ↗

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

Osteopetrosis: Pathogenesis, Clinical Management, and Emerging Therapies.Semantic proximity Read ↗

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