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

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 <i>SMARCAL1</i>. A phenotype–genotype correlation has been attempted and variable expressivity of biallelic <i>SMARCAL1</i> variants...

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Bibliographic Details
Main Authors: Cristina Bertulli, Antonio Marzollo, Margherita Doria, Silvia Di Cesare, Claudio La Scola, Francesca Mencarelli, Andrea Pasini, Maria Carmen Affinita, Enrico Vidal, Pamela Magini, Paola Dimartino, Riccardo Masetti, Laura Greco, Patrizia Palomba, Francesca Conti, Andra Pession
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:International Journal of Molecular Sciences
Subjects:
congenital
hereditary
neonatal diseases and abnormalities
consanguinity
DNA methylation
immune system diseases
Online Access:https://www.mdpi.com/1422-0067/21/22/8604

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