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

• Үндсэн зохиолчид: Leila Youssefian (Зохиогч), Hassan Vahidnezhad (Зохиогч), Andrew Touati (Зохиогч), Vahid Ziaee (Зохиогч), Amir Hossein Saeidian (Зохиогч), Sara Pajouhanfar (Зохиогч), Sirous Zeinali (Зохиогч), Jouni Uitto (Зохиогч)
• Формат: Ном
• Хэвлэсэн: BMC, 2018-05-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...