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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| Päätekijät: | , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Frontiers Media S.A.
2021-06-01
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| Sarja: | Frontiers in Genetics |
| Aiheet: | |
| Linkit: | https://www.frontiersin.org/articles/10.3389/fgene.2021.682565/full |
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