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

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

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...

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Bibliographic Details
Main Authors: Leila Youssefian, Hassan Vahidnezhad, Andrew Touati, Vahid Ziaee, Amir Hossein Saeidian, Sara Pajouhanfar, Sirous Zeinali, Jouni Uitto
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Medical Genetics
Subjects:
Hyaline fibromatosis syndrome
Genodermatoses
Mutation analysis
HFS
ANTXR2 gene
Online Access:http://link.springer.com/article/10.1186/s12881-018-0581-1

Internet

http://link.springer.com/article/10.1186/s12881-018-0581-1

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