Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia

BACKGROUND: Congenital abnormalities of the kidney and urinary tract (CAKUT) are characterized by vast phenotypic heterogeneity and incomplete penetrance. Although CAKUT represent the main cause of pediatric chronic kidney disease, only ∼20% can be explained by single-gene disorders to date. While p...

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Detalles Bibliográficos
Autores principales: Petzold, Friederike, Jin, Wenjun, Hantmann, Elena, Korbach, Katharina, Schönauer, Ria, Halbritter, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9217644/
https://www.ncbi.nlm.nih.gov/pubmed/35756743
http://dx.doi.org/10.1093/ckj/sfac092

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