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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
Journal article   Open access  Peer reviewed

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

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, …
Orphanet journal of rare diseases, Vol.14(1), pp.209-209
27/08/2019
PMCID: PMC6712857
PMID: 31455396

Abstract

ANTXR2 Biomarker Farber disease Genotype-phenotype correlation Hyaline fibromatosis syndrome
url
https://doi.org/10.1186/s13023-019-1183-5View
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