Infantile systemic hyalinosis - Report of two cases with identification of a novel gene mutation

• Main Authors: Sandipan Dhar (Author), Rashmi Agarwal (Author), Sahana M Srinivas (Author), Subhra Dhar (Author), Apurba Ghosh (Author)
• 格式: 图书
• 出版: Wolters Kluwer Medknow Publications, 2022-01-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Infantile systemic hyalinosis (ISH; MIM #236490) and juvenile hyaline fibromatosis (MIM #228600) represent two spectrums of the rare autosomal recessive disorder, the hyaline fibromatosis syndrome caused by mutations in ANTXR2/CMG2 encoding capillary morphogenesis protein-2. Herein, we report two ca...