Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia

Rare diseases are often misdiagnosed or receive a delayed diagnosis; thus, unfortunately, affected individuals may not receive optimal medical management. Here, we report a case of two siblings with a severe phenotype of progressive pseudorheumatoid dysplasia (PPD). Their onset of symptoms began at...

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Bibliografiske detaljer
Udgivet i:Cold Spring Harb Mol Case Stud
Main Authors: Alawbathani, Salem, Kawalia, Amit, Karakaya, Mert, Altmüller, Janine, Nürnberg, Peter, Cirak, Sebahattin
Format: Artigo
Sprog:Inglês
Udgivet: Cold Spring Harbor Laboratory Press 2018
Fag:
Research Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5793772/
https://ncbi.nlm.nih.gov/pubmed/29258992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002139
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