Article

Genetic testing for the diagnosis and classification of joint hypermobility: a case report of 15 patients

2020-02-21

Abstract excerpt

<title>Abstract</title> <p>The authors have withdrawn this preprint from Research Square.</p>

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 895f7ced-c631-52f1-a496-3b280353e5a4
DOI: 10.21203/rs.2.23844/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic testing for the diagnosis and classification of joint hypermobility: a case report of 15 patientsDOI 10.21203/rs.2.23844/v2Read

Contemporary approach to joint hypermobility and related disorders.Semantic proximity Read

Nosology and classification of genetic skeletal disorders: 2015 revisionSemantic proximity Read

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.Semantic proximity Read

Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: Workshop 9th June 2010, LUMC, Leiden, The NetherlandsSemantic proximity Read

Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disordersSemantic proximity Read

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

Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012.Semantic proximity Read

Genetic Disorders With Symptoms Mimicking Rheumatologic Diseases: A Single-Center Retrospective StudySemantic proximity Read

The 2017 international classification of the Ehlers-Danlos syndromes.Semantic proximity Read

Clinical diagnosis of the monogenic Ehlers-Danlos syndromesSemantic proximity Read

The new Nosology and classification of genetic skeletal disorders.Semantic proximity Read

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.Semantic proximity Read