A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report

BACKGROUND: Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SMARCAL1 gene mutations are determined in approximately 50% of patients diagnosed with SIOD. CASE PRESENTATION: The cas...

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Detalles Bibliográficos
Autores principales: Liu, Shuaimei, Zhang, Mingchao, Ni, Mengxia, Zhu, Peiran, Xia, Xinyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5745888/
https://www.ncbi.nlm.nih.gov/pubmed/29282041
http://dx.doi.org/10.1186/s12887-017-0968-8

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