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...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2022-01-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|