The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series
Abstract 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 mutati...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2018-05-01T00:00:00Z.
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