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...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2022-01-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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| Summary: | 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 cases of ISH with different clinical presentations confirmed by CMG2 gene mutations. Homogenous 79 bp deletion of the entire exon 11 reported in one of the cases has not been reported previously. |
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| Item Description: | 2319-7250 10.4103/ijpd.ijpd_57_21 |