Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease

BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a group of genetic autosomal recessive disorders that predominantly affects young children and results in early-onset progressive liver damage. Several types of PFIC were defined based on different genetic aetiologies in last decade...

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Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: Ge, Ting, Zhang, Xinyue, Xiao, Yongmei, Wang, Yizhong, Zhang, Ting
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2019
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6339326/
https://ncbi.nlm.nih.gov/pubmed/30658709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0753-7
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