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
A Rare Presentation of a 12-Year-Old With Systemic Infantile Hyalinosis: A Case Report and Review of the Literature.
Alfadhli F et al.
Cureus, 2024
Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome.
Daşar T et al.
The Turkish Journal of Pediatrics, 2024
Hyaline fibromatosis syndrome with a novel 4.41-kb deletion in ANTXR2 gene: A case report and literature review.
Zhu Y et al.
Molecular Genetics & Genomic Medicine, 2022
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
[Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome].
Yang J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
Härter B et al.
Molecular Genetics & Genomic Medicine, 2020
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
Cozma C et al.
Orphanet Journal of Rare Diseases, 2019
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.
Casas-Alba D et al.
Human Mutation, 2018
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
[Identification of novel compound heterozygous mutations in the ANTXR2 gene in a Chinese patient with juvenile hyaline fibromatosis].
Zhang Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.
Bürgi J et al.
Nature Communications, 2017
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
Haidar Z et al.
Bmc Genetics, 2017
Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene.
Youssefian L et al.
Acta Dermato-venereologica, 2017
[Infantile systemic hyalinosis: a case report and literature review].
Lu J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016
Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among "Malis (Farmers)" in Jodhpur.
Soni JP et al.
Indian Journal of Pediatrics, 2016
Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene.
Vahidnezhad H et al.
Clinical and Experimental Dermatology, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
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
A novel point mutation in the gene encoding capillary morphogenesis protein 2 in a Japanese patient with juvenile hyaline fibromatosis.
Hatamochi A et al.
The British Journal of Dermatology, 2007
Infantile systemic hyalinosis: a case report and mutation analysis in a Chinese infant.
Huang YC et al.
The British Journal of Dermatology, 2007