Ontology highlight
ABSTRACT:
SUBMITTER: Denadai R
PROVIDER: S-EPMC4264531 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Denadai Rafael R Raposo-Amaral Cassio E CE Bertola Débora D Kim Chong C Alonso Nivaldo N Hart Thomas T Han Sangwoo S Stelini Rafael F RF Buzzo Celso L CL Raposo-Amaral Cesar A CA Hart P Suzanne PS
American journal of medical genetics. Part A 20120301 4
Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair o ...[more]