Ontology highlight
ABSTRACT:
SUBMITTER: Schussler E
PROVIDER: S-EPMC6057141 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Schussler Edith E Linkner Rita V RV Levitt Jacob J Mehta Lakshmi L Martignetti John A JA Oishi Kimihiko K
Advances in genomics and genetics 20180627
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder and an allelic form of hyaline fibromatosis syndrome that is caused by mutations in the <i>ANTRX2</i> gene encoding the transmembrane anthrax toxin receptor 2. Its main features include characteristic skin lesions, joint contractures, persistent diarrhea, and failure to thrive due to accumulation of hyaline material in multiple organs. The resulting severe malnutrition can cause death in early infancy. Because of its rari ...[more]