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

Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta

24 Oct 2014

Abstract excerpt

Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting the musculoskeletal system in children. Rare genetic disorders are severely disabling and can have substantial impacts on families, children, and on healthcare systems. This literature review aims to classify, summarize and compare these non-medical impacts of achondroplasia,...

Read the complete abstract on PubMed

Topics

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

Share to Bone fractures and treatments
Share to Connective tissue disorders research
Share to Hip disorders and treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25649344
DOI: 10.1186/s12955-014-0151-y

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

Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfectaPMID 25649344Read ↗

Advances in understanding etiology of achondroplasia and review of management.Semantic proximity Read ↗

Achondroplasia: a comprehensive clinical reviewSemantic proximity Read ↗

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendationsSemantic proximity Read ↗

Epidemiology of achondroplasia: A population‐based study in EuropeSemantic proximity Read ↗

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.Semantic proximity Read ↗

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational studySemantic proximity Read ↗

Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.Semantic proximity Read ↗

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

Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysisSemantic proximity Read ↗

Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.Semantic proximity Read ↗

Utility of Next Generation Sequencing in Genetic Testing and Counseling of Disorders Involving the Musculoskeletal System–Trends Observed From a Single Genetic UnitSemantic proximity Read ↗

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

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