Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells

Schimke immuno-osseous dysplasia (SIOD) is a rare multisystemic disorder with a variable clinical expressivity caused by biallelic variants in SMARCAL1. A phenotype–genotype correlation has been attempted and variable expressivity of biallelic SMARCAL1 variants may be associated with environmental a...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Bertulli, Cristina, Marzollo, Antonio, Doria, Margherita, Di Cesare, Silvia, La Scola, Claudio, Mencarelli, Francesca, Pasini, Andrea, Affinita, Maria Carmen, Vidal, Enrico, Magini, Pamela, Dimartino, Paola, Masetti, Riccardo, Greco, Laura, Palomba, Patrizia, Conti, Francesca, Pession, Andrea
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7696905/
https://ncbi.nlm.nih.gov/pubmed/33203071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21228604
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