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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2014

Open Access 01-09-2014 | Poster presentation

Clinical and radiological presentation of a child with progressive pseudorheumatoid dysplasia

Authors: E Atsali, KD Stathopoulos, I Bournazos, E Damianou, AA Partsinevelos, Y Dionyssiotis, A Papadopoulou, V Papaevangelou, PJ Papagelopoulos, G Skarantavos

Published in: Pediatric Rheumatology | Special Issue 1/2014

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Excerpt

The role of WNT pathway in bone formation and maintenance has been extensively studied since the identification of mutations in key signalling WNT mediators in diseases with high or low bone-mass phenotypes. In humans, loss-of-function mutations in WISP3, encoding Wnt1-inducible signaling protein 3, cause progressive pseudorheumatoid dysplasia (PPD), an autosomal recessive form of spondyloepiphyseal dysplasia tarda. …
Metadata
Title
Clinical and radiological presentation of a child with progressive pseudorheumatoid dysplasia
Authors
E Atsali
KD Stathopoulos
I Bournazos
E Damianou
AA Partsinevelos
Y Dionyssiotis
A Papadopoulou
V Papaevangelou
PJ Papagelopoulos
G Skarantavos
Publication date
01-09-2014
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2014
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-12-S1-P167

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