Infantile systemic hyalinosis: report of a case from Bahrain and review of literature
Background: Infantile systemic hyalinosis (ISH), an allelic form of hyaline fibromatosis syndrome, is a rare fatal autosomal recessive disorder that is caused by mutations in the CMG2/ANTRX2 gene encoding the transmembrane anthrax toxin receptor 2. It has a compound of features due to the accumulati...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2020-12-01
|
| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=121892 |