Cargando…
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...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
|
| Materias: | |
| 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 |