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...

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書誌詳細

出版年:	The Turkish Journal of Pediatrics
主要な著者:	Tuğba Daşar, Hasibe Nesligül Gönen, Kemal Kösemehmetoğlu, Özlem Tekşam, Koray Boduroğlu, Gülen Eda Utine, Pelin Özlem Şimşek Kiper
フォーマット:	論文
言語:	英語
出版事項:	Hacettepe University Institute of Child Health 2024-05-01
主題:	Hyaline Fibromatosis Syndrome juvenile hyaline fibromatosis infantile systemic hyalinosis ANTXR2 CMG2
オンライン･アクセス:	https://turkjpediatr.org/article/view/4511