A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing

Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive inherited disorder that is caused by the SMARCAL1 mutation. The phenotype can vary from mild to severe on the basis of the patient’s age at onset. Herein, we report the case of a 14-year-old Chinese boy who presented with short st...

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Detalles Bibliográficos
Autores principales: Wang, Li, Li, Jingjing, Wu, Ge, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8829751/
https://www.ncbi.nlm.nih.gov/pubmed/33900868
http://dx.doi.org/10.1177/03000605211010644

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8829751/
https://www.ncbi.nlm.nih.gov/pubmed/33900868
http://dx.doi.org/10.1177/03000605211010644

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