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The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series
BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in t...
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| Pubblicato in: | BMC Med Genet |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5970508/ https://ncbi.nlm.nih.gov/pubmed/29801470 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0581-1 |
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