Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation
Infantile Systemic Hyalinosis (ISH) (OMIM 236490) is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infecti...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Oman Medical Specialty Board
2013-01-01
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| Series: | Oman Medical Journal |
| Subjects: | |
| Online Access: | http://www.omjournal.org/fultext_PDF.aspx?DetailsID=335&type=fultext |