Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability

Skraban-Deardorff syndrome is a rare autosomal dominant genetic disease caused by variants in the WDR26 gene. Here, we report two Chinese patients diagnosed with Skraban-Deardorff syndrome caused by novel de novo, heterozygous pathogenic WDR26 variants c.977delA (p. 12 N326Ifs*2) and c.1020-2A>G...

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Detalles Bibliográficos
Autores principales: Hu, Jiacheng, Xu, Mingming, Zhu, Xiaobo, Zhang, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140611/
https://www.ncbi.nlm.nih.gov/pubmed/35627197
http://dx.doi.org/10.3390/genes13050813

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140611/
https://www.ncbi.nlm.nih.gov/pubmed/35627197
http://dx.doi.org/10.3390/genes13050813

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