Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.

Carola GiacobbeFabiola Di DatoDaniela PalmaMichele AmitranoRaffaele IorioGiuliana Fortunato

Published in: Molecular genetics & genomic medicine (2022)

The identification of the genetic causes of the disease and their relationship with the clinical phenotype could have a favorable impact on clinical management and complication prevention.

Keyphrases

case report
copy number
genome wide
bioinformatics analysis
dna methylation