Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutation
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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | Indian Journal of Paediatric Dermatology |
| Subjects: | |
| Online Access: | http://www.ijpd.in/article.asp?issn=2319-7250;year=2022;volume=23;issue=2;spage=126;epage=128;aulast=Dhar |