Associated Papers
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
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
31455396 (PubMed )
Supplement: 13023_2019_1183_MOESM2_ESM.docx
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
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
Haidar Z et al.
Bmc Genetics, 2017
Abstracts of ICIEM 2013, the 12th International Congress of Inborn Errors of Metabolism. Barcelona, Spain. September 3-6, 2013.
Unknown Author
Journal of Inherited Metabolic Disease, 2013
Identification of a novel splicing mutation of ECM1 in a rare lipoid proteinosis family.
Gao D et al.
The Journal of Dermatology, 2013
Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2.
Tümer L et al.
The Journal of Dermatology, 2013
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