Associated Papers
Autosomal Recessive Infantile Hyaline Fibromatosis Identified Using Artificial Intelligence-Assisted Rapid Whole Genome Sequencing: A Rare, Multisystemic, Hereditary Disorder.
Ye GX et al.
Cureus, 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
35726349 (PubMed )
Supplement: MGG3-10-e1993-s001.docx
Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India.
Chaudhry C et al.
Congenital Anomalies, 2021
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
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
Haidar Z et al.
Bmc Genetics, 2017
Differential dependence on N-glycosylation of anthrax toxin receptors CMG2 and TEM8.
Friebe S et al.
Plos One, 2015
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
Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.
Deuquet J et al.
Human Mutation, 2009
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Hanks S et al.
American Journal of Human Genetics, 2003
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