The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series

• Main Authors: Leila Youssefian (Author), Hassan Vahidnezhad (Author), Andrew Touati (Author), Vahid Ziaee (Author), Amir Hossein Saeidian (Author), Sara Pajouhanfar (Author), Sirous Zeinali (Author), Jouni Uitto (Author)
• 格式: 圖書
• 出版: BMC, 2018-05-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Background Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutati...