Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibrom...
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
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England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. It manifests as multiple skin nodules, patchy hyperpigmentation, joint contractures and severe pain with movement. HFS shows some clinical overlap to Farber disease (FD), a recessive lysosomal s...
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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
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TN_cdi_doaj_primary_oai_doaj_org_article_ad6e189b819e470e8448785fa1427c99
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ad6e189b819e470e8448785fa1427c99
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-019-1183-5
