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Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism

Interstitial and terminal deletions of chromosome 4q have been described for many years and have variable phenotypes depending on the size of the deletion present. Clinical features can include developmental delay, growth difficulty, digital differences, dysmorphic features, and cardiac anomalies. H...

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Publicat a:Mol Syndromol
Autors principals: Barone Pritchard, Amanda, Ritter, Alyssa, Kearney, Hutton M., Izumi, Kosuke
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6995944/
https://ncbi.nlm.nih.gov/pubmed/32021607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000505279
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