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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Detalles Bibliográficos
Autores principales: Ge, Ting, Zhang, Xinyue, Xiao, Yongmei, Wang, Yizhong, Zhang, Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339326/
https://www.ncbi.nlm.nih.gov/pubmed/30658709
http://dx.doi.org/10.1186/s12881-019-0753-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339326/
https://www.ncbi.nlm.nih.gov/pubmed/30658709
http://dx.doi.org/10.1186/s12881-019-0753-7

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