The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1

BACKGROUND: Copy number variants (CNVs) are increasingly recognized as an important cause of congenital malformations and likely explain over 16% cases of CAKUT. Here, we illustrate how a molecular diagnosis of CNV can inform the clinical management of a pediatric patient presenting with CAKUT and o...

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Main Authors: Materna-Kiryluk, Anna, Kiryluk, Krzysztof, Burgess, Katelyn E, Bieleninik, Arkadiusz, Sanna-Cherchi, Simone, Gharavi, Ali G., Latos-Bielenska, Anna
Formato: Artigo
Idioma:Inglês
Publicado: 2013
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3921621/
https://ncbi.nlm.nih.gov/pubmed/24292865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-013-2625-2
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