Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

Abstract 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...

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Detalhes bibliográficos
Main Authors: Gregorio Serra, Giovanni Corsello, Vincenzo Antona, Maria Michela D’Alessandro, Nicola Cassata, Marcello Cimador, Mario Giuffrè, Ingrid Anne Mandy Schierz, Ettore Piro
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2020-10-01
Colecção:Italian Journal of Pediatrics
Assuntos:
ARPKD
Potter sequence
Next generation sequencing
Genotype-phenotype correlation
Ethics
Acesso em linha:http://link.springer.com/article/10.1186/s13052-020-00922-4
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