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Novel Melano-Cortin-2-Receptor Gene Mutation Presenting With Infantile Cholestasis: A Case Report

INTRODUCTION: For many years, congenital panhypopituitarism has been recognized to cause infantile cholestasis. However, the isolated cortisol deficiency as a cause of cholestasis and liver failure was rarely reported. CASE DESCRIPTION: A 32-days old male infant presented to the hepatology clinic wi...

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Detalles Bibliográficos
Autores principales: Alsaedi, Abdulaziz, Kamal, Naglaa M, Bakkar, Ayman, Althobaiti, Enad, Naeem, Muhammad, Kamal, Mohamed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8998368/
https://www.ncbi.nlm.nih.gov/pubmed/35418791
http://dx.doi.org/10.1177/11795476221091387