Identification of Pathogenic PKHD1 Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman [version 1; peer review: 2 approved]

Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare, inherited disorder primarily affecting the kidneys and liver. Disease-causing variants in PKHD1 lead to a disruption of the encoded protein fibrocystin/polyductin. This study aims to identify disease causing variants in PKHD...

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Ngā kaituhi matua:	Maha Al Awadi, Fatma Al Awaid, Joshua Pillai, Matthew Sampson, Juliana E. Arcila Galvis, Ashwaq Al Maimani, Zainab Al Hashmi, John A. Sayer, Intisar Al Alawi
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	F1000 Research Ltd 2025-11-01
Rangatū:	F1000Research
Ngā marau:	PKHD1 Autosomal Recessive Polycystic Kidney Disease Dhofar Consanguinity Genetic heterogeneity Oman eng
Urunga tuihono:	https://f1000research.com/articles/14-1212/v1
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!