OMIM 228600 236490 608041 | ||
GeneReviews Hyalinosis, Inherited Systemic | ||
Infantile systemic hyalinosis or juvenile systemic hyalinosis is an allelic autosomal-recessive condition characterized by multiple skin nodules, hyaline deposition, gingival hypertrophy, osteolytic bone lesions, and joint contractures.
Genetics
This disease is caused by mutations in the CMG2 gene.
References
Infantile systemic hyalinosis Wikipedia(Text) CC BY-SA