Juvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in SMAD4.
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ABSTRACT:
SUBMITTER: Bishop JC
PROVIDER: S-EPMC5916806 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
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Juvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in <i>SMAD4</i>.
Bishop Juliet Chhay JC Britton Jacquelyn Francis JF Murphy Anne M AM Sule Sangeeta S Mitchell Sally S Takemoto Clifford C Collaco Joseph M JM Karnsakul Wikrom W Cuffari Carmelo C Dietz Edith E Bodurtha Joann J
Journal of pediatric genetics 20171229 2
Juvenile polyposis (JP) syndrome is characterized by multiple hamartomatous polyps of the gastrointestinal tract. Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectasia in the skin, mucous membranes, and arteriovenous malformations in other organs. Individuals with JP-HHT syndrome have variable features of both rare disorders, attributed to heterozygous mutations in the <i>SMAD4</i> gene. Systemic juvenile idiopathic arthritis (JIA) is a severe, chron ...[more]
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