Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome
Background. Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues. The hallmarks of the disease are joint contractures, generalized skin stiffness...
| Published in: | The Turkish Journal of Pediatrics |
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| Main Authors: | , , , , , , |
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2024-05-01
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| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/4511 |