Schimke immuno-osseous dysplasia. A case report in Colombia-Reference-Cited by-同舟云学术

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Schimke immuno-osseous dysplasia. A case report in Colombia

Published:2023-12 Issue: Volume:37 Page:100995
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Orozco Rafael Adrián Pacheco,Padilla-Guzmán Alejandro,Forero-Delgadillo Jessica María,Jiménez Vanessa Amparo Ochoa,Pachajoa Harry,Parra Nancy Janeth Vargas,Restrepo Jaime M.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference27 articles.

1. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia;Boerkoel;Nat. Genet.,2002

2. A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report;Liu;BMC Pediatr.,2017

3. Insights into the renal pathogenesis in Schimke Immuno-osseous dysplasia: a renal histological characterization and expression analysis;Sarin;J. Histochem. Cytochem.,2015

4. Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation;Elizonod;J. Med. Genet.,2009

5. Expanding phenotype of schimke immuno-osseous dysplasia: congenital anomalies of the kidneys and of the urinary tract and alteration of nk cells;Bertulli;Int. J. Mol. Sci.,2020

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