Article

Systematical analysis of nine Chinese patients with progressive pseudorheumatoid dysplasia and assessment of calcitriol treatment

2020-06-23

Abstract excerpt

<title>Abstract</title> <p>Background: Progressive pseudorheumatoid dysplasia (PPRD) (MIM 208230) is a rare genetic disease characterized by progressive noninflammatory arthropathy affecting primarily the articular cartilage. Most patients are initially misdiagnosed because of the rarity of the disease and lack of awareness by most clinicians. Therefore, the purpose of the present study was to provide further dia...

Topics

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

Identifiers and source

Literature Corpus work: d219ae66-e123-5038-a495-865be4973d81
DOI: 10.21203/rs.3.rs-37114/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Systematical analysis of nine Chinese patients with progressive pseudorheumatoid dysplasia and assessment of calcitriol treatmentDOI 10.21203/rs.3.rs-37114/v1Read

Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies.Semantic proximity Read

A Retrospective Study of Nine Patients with Progressive Pseudorheumatoid Dysplasia: To Explore Early Diagnosis and Further TreatmentSemantic proximity Read

13 year old Female with Progressive Pseudorheumatoid Dysplasia misdiagnosed as Juvenile idiopathic arthritisSemantic proximity Read

Progressive pseudorheumatoid dysplasia involving a novel WISP3 mutation and sacroiliac and hip arthritis: A case report and literature review.Semantic proximity Read

Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3.Semantic proximity Read

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.Semantic proximity Read

Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia.Semantic proximity Read

Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.Semantic proximity Read

Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia.Semantic proximity Read

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.Semantic proximity Read

A novel WISP3 mutation in a Chinese patient with progressive pseudorheumatoid dysplasia.Semantic proximity Read

A Rare Skeletal Dysplasia-Close Mimicker Of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia.Semantic proximity Read