Caricamento...
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
INTRODUCTION: Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-ons...
Salvato in:
| Pubblicato in: | Ital J Pediatr |
|---|---|
| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2020
|
| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7560064/ https://ncbi.nlm.nih.gov/pubmed/33059727 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-020-00922-4 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|