A case of Myhre syndrome mimicking juvenile scleroderma

A case of Myhre syndrome mimicking juvenile scleroderma

Abstract Background Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. Skin thickening and joint contractures are often the main presenting features of the disease and ma...

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Bibliographic Details
Main Authors: Barbara Jensen, Rebecca James, Ying Hong, Ebun Omoyinmi, Clarissa Pilkington, Neil J. Sebire, Kevin J. Howell, Paul A. Brogan, Despina Eleftheriou
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Pediatric Rheumatology Online Journal
Subjects:
Scleroderma
Myhre syndrome
SMAD4
Online Access:http://link.springer.com/article/10.1186/s12969-020-00466-1

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http://link.springer.com/article/10.1186/s12969-020-00466-1

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