Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency

BACKGROUND: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common clinical phenotype of citrin deficiency in infants. Its phenotype is atypical, so genetic testing is quite necessary for the diagnosis. CASE PRESENTATION: We report 4 patients with jaundice and low body wei...

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Detalles Bibliográficos
Autores principales: Wang, Kena, Zou, Biao, Chen, Fan, Zhang, Jianling, Huang, Zhihua, Shu, Sainan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090684/
https://www.ncbi.nlm.nih.gov/pubmed/37063661
http://dx.doi.org/10.3389/fped.2023.1103877

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090684/
https://www.ncbi.nlm.nih.gov/pubmed/37063661
http://dx.doi.org/10.3389/fped.2023.1103877

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