Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Abstract Background Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. It manifests as multiple skin nodules, patchy hyperpigmentation, joint contractures and severe pain with movement. HFS shows...

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Bibliographic Details
Main Authors: Claudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, Nawal Makhseed, Laila A. Selim, Amal M. Alhashem, Tawfeg Ben-Omran, Iman G. Mahmoud, Nihal M. Al Menabawy, Mariam Al-Mureikhi, Magi Martin, Laura Demuth, Zafer Yüksel, Christian Beetz, Peter Bauer, Arndt Rolfs
Format: Article
Language:English
Published: BMC 2019-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
ANTXR2
Biomarker
Farber disease
Genotype-phenotype correlation
Hyaline fibromatosis syndrome
Online Access:http://link.springer.com/article/10.1186/s13023-019-1183-5

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http://link.springer.com/article/10.1186/s13023-019-1183-5

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