Article
Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.
European journal of medical genetics - 1 Dec 2015
Capo-Chichi José-Mario, Mehawej Cybel, Delague Valerie, Caillaud Catherine, Khneisser Issam, Hamdan Fadi F, Michaud Jacques L, Kibar Zoha, Mégarbané André
Abstract excerpt
BACKGROUND: Recently, biallelic mutations in the Neuroblastoma Amplified Sequence NBAS gene have been identified in ten patients that present recurrent acute liver failure (RALF) in early infancy. In addition to severe liver dysfunction, some of these individuals also suffered from other comorbidities including cardiomyopathy, neurologic phenotypes and gastrointestinal immune defects. Here we report on a...
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