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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...

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書誌詳細
出版年:Ital J Pediatr
主要な著者: Serra, Gregorio, Corsello, Giovanni, Antona, Vincenzo, D’Alessandro, Maria Michela, Cassata, Nicola, Cimador, Marcello, Giuffrè, Mario, Schierz, Ingrid Anne Mandy, Piro, Ettore
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2020
主題:
オンライン・アクセス: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
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