Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD

Schimke immuno-osseous dysplasia (SIOD) is an extremely rare autosomal recessive pleiotropic disease. Although biallelic mutations in SMARCAL1 gene have been reported to be the genetic etiology of SIOD, its molecular diagnosis has been challenging in a relatively proportion of cases due to the extre...

Descripción completa

Detalles Bibliográficos
Autores principales: Jin, Jing, Wu, Keke, Liu, Zhenwei, Chen, Xiaomin, Jiang, Shan, Wang, Zhen, Li, Weixing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591458/
https://www.ncbi.nlm.nih.gov/pubmed/31275356
http://dx.doi.org/10.3389/fgene.2019.00565

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591458/
https://www.ncbi.nlm.nih.gov/pubmed/31275356
http://dx.doi.org/10.3389/fgene.2019.00565

Ejemplares similares