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Early Diagnosis of ABCB11 Spectrum Liver Disorders by Next Generation Sequencing PGHN

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Table 1. Etiologies of Conjugated Hyperbilirubinemia in Infancy by Disease Category
Fig. 1.  Pedigrees of two Korean families who were subjected  to familial genetic analyses
Fig. 2.  Imaging and histologic findings in the patients. (A) A plain abdominal X-ray of patient II-1 with progressive familial  intrahepatic cholestasis type 2 (PFIC2) revealed a markedly distended abdomen with no air-fluid levels or free gas under the  d
Fig. 3.  Identification of novel  mutations. (A) Identification  of causative novel heterozygous mutations in the progressive  familial intrahepatic  choles-tasis type 2 patient and his  parents

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