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Anomalies of the Genitourinary Tract in Children with 22q11.2 Deletion Syndrome

The 22q11.2 deletion syndrome (22q11.2DS) involves multiple organ systems with variable phenotypic expression. Genitourinary tract abnormalities have been noted to be present in up to 30–40% of patients. At our institution, an internationally recognized, comprehensive and multidisciplinary 22q11.2DS...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Van Batavia, Jason P., Crowley, T. Blaine, Burrows, Evanette, Zackai, Elaine H., Sanna-Cherchi, Simone, McDonald-McGinn, Donna M., Kolon, Thomas F.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6491205/
https://ncbi.nlm.nih.gov/pubmed/30582277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61020
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