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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Materias: | |
| 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 |