A case of Myhre syndrome mimicking juvenile scleroderma

• Main Authors: Barbara Jensen (Author), Rebecca James (Author), Ying Hong (Author), Ebun Omoyinmi (Author), Clarissa Pilkington (Author), Neil J. Sebire (Author), Kevin J. Howell (Author), Paul A. Brogan (Author), Despina Eleftheriou (Author)
• Format: Book
• Published: BMC, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...