Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA

Alagille syndrome (ALGS, MIM 118450) is an autosomal dominant, multisystem disorder with high variability. Two genes have been described: JAG1 and NOTCH2. The population prevalence is 1:70,000 based on the presence of neonatal liver disease. The majority of cases (∼97%) are caused by haploinsufficie...

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Detalhes bibliográficos
Main Authors: Vozzi, D., Licastro, D., Martelossi, S., Athanasakis, E., Gasparini, P., Fabretto, A.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2013
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3666453/
https://ncbi.nlm.nih.gov/pubmed/23801938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000347231
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