Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report

Patient: Male, 3-year-old Final Diagnosis: Autosomal recessive polycystic kidney disease • polycystic liver disease Symptoms: Enlarged cystic kidneys • hyperbilirubinemia Medication: — Clinical Procedure: Kasai procedure Specialty: Genetics • Pediatrics and Neonatology OBJECTIVE: Rare disease BACKGR...

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Detalles Bibliográficos
Autores principales: Van Buren, Jacob D., Neuman, Jeremy T., Sidlow, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9883601/
https://www.ncbi.nlm.nih.gov/pubmed/36691356
http://dx.doi.org/10.12659/AJCR.938507

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9883601/
https://www.ncbi.nlm.nih.gov/pubmed/36691356
http://dx.doi.org/10.12659/AJCR.938507

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