Associated Papers
Genetic Insights Into Hyaline Fibromatosis Syndrome: A Case Report of an ANTXR2 Mutation Featuring a Rare Variant c.697+1G>A.
Ghotbabadi SH et al.
Clinical Case Reports, 2025
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
Härter B et al.
Molecular Genetics & Genomic Medicine, 2020
Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report.
Gao Y et al.
Molecular Medicine Reports, 2018
Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation.
Schussler E et al.
Advances in Genomics and Genetics, 2018
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
Haidar Z et al.
Bmc Genetics, 2017
Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among "Malis (Farmers)" in Jodhpur.
Soni JP et al.
Indian Journal of Pediatrics, 2016
Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report.
Jaouad IC et al.
Journal of Medical Case Reports, 2014
In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy.
Yan SE et al.
Human Mutation, 2013
Different molecular consequences of frameshift mutations in the ANTXR2 gene.
Rampoldi L
Human Mutation, 2013
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.
Denadai R et al.
American Journal of Medical Genetics. Part A, 2012
The dark sides of capillary morphogenesis gene 2.
Deuquet J et al.
The Embo Journal, 2012
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.
Deuquet J et al.
Embo Molecular Medicine, 2011
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