Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Decoding Genetic Disease Through the Skin: Lessons From the UDN.
Sivadas A et al.
International Journal of Dermatology, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome.
Daşar T et al.
The Turkish Journal of Pediatrics, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
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
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
Härter B et al.
Molecular Genetics & Genomic Medicine, 2020
Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis.
Bürgi J et al.
Developmental Cell, 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
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Shashi V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.
Youssefian L et al.
Bmc Medical Genetics, 2018
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena LDM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation.
Schussler E et al.
Advances in Genomics and Genetics, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College 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 with Mutation in ANTXR2.
Narayanan DL et al.
Indian 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
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
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
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
Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant.
Lee JY et al.
Clinical and Experimental Dermatology, 2005