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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

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