Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics

BACKGROUND: Autosomal 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 k...

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Detalles Bibliográficos
Autores principales: de Fallois, Jonathan, Schönauer, Ria, Münch, Johannes, Nagel, Mato, Popp, Bernt, Halbritter, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8267867/
https://www.ncbi.nlm.nih.gov/pubmed/34249099
http://dx.doi.org/10.3389/fgene.2021.682565

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8267867/
https://www.ncbi.nlm.nih.gov/pubmed/34249099
http://dx.doi.org/10.3389/fgene.2021.682565

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