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
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
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
Infantile systemic hyalinosis: Case report and review of the literature.
Lindvall LE et al.
Journal of the American Academy of Dermatology, 2008
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