Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features.
Clinical dysmorphology（2023）
摘要
Awwad, Johnnya; Yammine, Tonyb; Hamdar, Layala; Souaid, Mirnab; Farra, Chantalb,c Author Information
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关键词
alagille syndrome,novel intronic jag1 variant,lebanese family,three-generation
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