A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia

A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia

Schimke immuno-osseous dysplasia (SIOD)caused by SMARCAL1 gene mutations is a rare genetic disorder characterized by multi-system involvement, including T-cell dysfunction, skeletal dysplasia, disproportionate short stature, nephrotic syndrome, and kidney failure. This multidisciplinary consultation...

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Main Authors: DING Juan, WANG Wei, XIAO Juan, ZHANG Yan, ZHU Huijuan, ZHANG Wen, GAO Peng, CHEN Limeng, LYU Wei, ZOU Xuan, ZHAO Xiaoyi, SONG Hongmei, MA Mingsheng
Format: Article
Language:zho
Published: Editorial Office of Journal of Rare Diseases 2024-10-01
Series:罕见病研究
Subjects:
schimke immuno-osseous dysplasia
short stature
immunodeficiency
osteodysplasia
nephropathy
Online Access:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.009
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https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.009

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