Article
Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2015
Cho Jin Min, Oh Seak Hee, Kim Hyun Jin, Kim Joon Sung, Kim Kyung Mo, Kim Gu-Hwan, Yu Eunsil, Lee Beom Hee, Yoo Han-Wook
Abstract excerpt
BACKGROUND: Alagille syndrome (AGS) is a multisystem autosomal dominant disorder that affects the liver, heart, eyes, face, bone, and other organs. AGS is caused by mutations in one of two genes, JAG1 or NOTCH2. We evaluated clinical features, outcomes, and the presence of JAG1 and NOTCH2 mutations in Korean children with AGS. METHODS: Between January 1997 and December 2013, 19 children were diagnosed with AGS at...
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