Two loss‐of‐function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway

KBG syndrome is a rare genetic disease characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Heterozygous mutations in ANKRD11 gene, or deletion of 16q24.3 that includes ANKRD11 gene are the cause of KBG syndrome. We describe two patients presentin...

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Detalles Bibliográficos
Autores principales: Zhang, Tingting, Yang, Yun, Yin, Xueling, Wang, Xueqing, Ni, Jihong, Dong, Zhiya, Li, Chuanyin, Lu, Wenli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7898801/
https://www.ncbi.nlm.nih.gov/pubmed/33354850
http://dx.doi.org/10.1002/ajmg.a.62024

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