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An Unusual Presentation of Extremely Early Neonatal Cirrhosis in Shwachman-Diamond Syndrome: A Case Report

Exocrine pancreatic insufficiency, haematological dysfunction, and skeletal abnormalities are the three clinical characteristics of the rare inherited bone marrow failure syndrome (IBMFS), known as Shwachman-Diamond syndrome (SDS). Cirrhosis at a neonatal age is uncommon and is typically not documen...

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Detalles Bibliográficos
Autores principales: Reddy, Tejaswy, Kotha, Rakesh, M, Alimelu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241746/
https://www.ncbi.nlm.nih.gov/pubmed/37288222
http://dx.doi.org/10.7759/cureus.38583