Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease

INTRODUCTION: Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes fo...

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Detalles Bibliográficos
Autores principales: Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Büscher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wühl, Elke, Yilmaz, Alev, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9263410/
https://www.ncbi.nlm.nih.gov/pubmed/35812281
http://dx.doi.org/10.1016/j.ekir.2022.04.095

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