Article
Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.
American journal of medical genetics. Part A - 1 Feb 2016
Izumi Kosuke, Hayashi Daisuke, Grochowski Christopher M, Kubota Noriko, Nishi Eriko, Arakawa Michiko, Hiroma Takehiko, Hatata Tomoko, Ogiso Yoshifumi, Nakamura Tomohiko, Falsey Alexandra M, Hidaka Eiko, Spinner Nancy B
Abstract excerpt
Alagille syndrome is a multisystem developmental disorder characterized by bile duct paucity, congenital heart disease, vertebral anomalies, posterior embryotoxon, and characteristic facial features. Alagille syndrome is typically the result of germline mutations in JAG1 or NOTCH2 and is one of several human diseases caused by Notch signaling abnormalities. A wide phenotypic spectrum has been well documented in...
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