Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics

BackgroundAutosomal polycystic kidney disease is distinguished into dominant (ADPKD) and recessive (ARPKD) inheritance usually caused by either monoallelic (PKD1/PKD2) or biallelic (PKHD1) germline variation. Clinical presentations are genotype-dependent ranging from fetal demise to mild chronic kid...

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Bibliographic Details
Main Authors: Jonathan de Fallois, Ria Schönauer, Johannes Münch, Mato Nagel, Bernt Popp, Jan Halbritter
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Genetics
Subjects:
PKD1
PKHD1
ADPKD
ARPKD
cystic kidneys
chronic kidney disease
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.682565/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.682565/full

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