Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report.
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DOI: 10.3892/mmr.2018.9421
Abstract: Hyaline fibromatosis syndrome (HFS; MIM 228600) is a rare autosomal recessive disorder characterized by the abnormal growth of hyalinized fibrous tissue at subcutaneous regions on the scalp, ears and neck. The disease is caused by… read more here.
Keywords: antxr2 gene; mutations antxr2; fibromatosis syndrome; hyaline fibromatosis ... See more keywords