Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center

PURPOSE: Alagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a cri...

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Publicat a:Korean J Pediatr
Autors principals: Ahn, Kyung Jin, Yoon, Ja Kyoung, Kim, Gi Beom, Kwon, Bo Sang, Go, Jung Min, Moon, Jin Su, Bae, Eun Jung, Noh, Chung Il
Format: Artigo
Idioma:Inglês
Publicat: The Korean Pediatric Society 2015
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4644768/
https://ncbi.nlm.nih.gov/pubmed/26576184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2015.58.10.392
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