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

• Автори: Leila Youssefian (Автор), Hassan Vahidnezhad (Автор), Andrew Touati (Автор), Vahid Ziaee (Автор), Amir Hossein Saeidian (Автор), Sara Pajouhanfar (Автор), Sirous Zeinali (Автор), Jouni Uitto (Автор)
• Формат: Книга
• Опубліковано: BMC, 2018-05-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...