Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature

KBG syndrome (KBGS) is a rare autosomal dominant inherited disease that involves multiple systems and is associated with variations in the ankyrin repeat domain 11 (ANKRD11) gene. We report the clinical and genetic data for 13 Chinese KBGS patients diagnosed by genetic testing and retrospectively an...

Descripción completa

Detalles Bibliográficos
Autores principales: Gao, Fenqi, Zhao, Xiu, Cao, Bingyan, Fan, Xin, Li, Xiaoqiao, Li, Lele, Sui, Shengbin, Su, Zhe, Gong, Chunxiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8948816/
https://www.ncbi.nlm.nih.gov/pubmed/35330407
http://dx.doi.org/10.3390/jpm12030407

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8948816/
https://www.ncbi.nlm.nih.gov/pubmed/35330407
http://dx.doi.org/10.3390/jpm12030407

Ejemplares similares