Genetic Insights Into Hyaline Fibromatosis Syndrome: A Case Report of an ANTXR2 Mutation Featuring a Rare Variant c.697+1G>A

Genetic Insights Into Hyaline Fibromatosis Syndrome: A Case Report of an ANTXR2 Mutation Featuring a Rare Variant c.697+1G>A

ABSTRACT Hyaline fibromatosis syndrome (HFS) is a rare genetic disorder encompassing juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH), caused by mutations in the anthrax toxin receptor 2 gene (ANTXR2). This condition leads to the accumulation of hyaline plaques in the skin...

Full description

Saved in:
Bibliographic Details
Main Authors: Shabnam Hajiani Ghotbabadi, Reza Shiari, Shayan Yousufzai, Simin Sharifi
Format: Article
Language:English
Published: Wiley 2025-04-01
Series:Clinical Case Reports
Subjects:
ANTXR2
arthrogryposis
genetics
hyaline fibromatosis syndrome
pediatrics
rheumatology
Online Access:https://doi.org/10.1002/ccr3.70312
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items