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Compound Heterozygous MYO5B Mutation, a Cause of Infantile Cholestasis: A Case Report

Infantile cholestasis is a common clinical problem in early infancy characterised by impairment in bile formation and/or flow. It requires prompt evaluation for underlying aetiology to initiate appropriate management. Although biliary atresia remains the most important aetiology, metabolic and monog...

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Detalles Bibliográficos
Autores principales: Khanal, Muna, Jha, Adarsh Kumar, Sharma, Arun Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Journal of the Nepal Medical Association 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9794933/
https://www.ncbi.nlm.nih.gov/pubmed/36705120
http://dx.doi.org/10.31729/jnma.7860