Novel Association of Early Onset Hepatocellular Carcinoma with Transaldolase Deficiency

We evaluated a family with a 16-month-old boy with cirrhosis and hepatocellular carcinoma and his 30-month-old brother with cirrhosis. After failing to identify a diagnosis after routine metabolic evaluation, we utilized a combination of RNA-Seq and whole exome sequencing to identify a novel homozyg...

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Autors principals: LeDuc, Charles A., Crouch, Elizabeth E., Wilson, Ashley, Lefkowitch, Jay, Wamelink, Mirjam M. C., Jakobs, Cornelis, Salomons, Gajja S., Sun, Xiaoyun, Shen, Yufeng, Chung, Wendy K.
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2013
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3897795/
https://ncbi.nlm.nih.gov/pubmed/24097415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_254
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