The clinical spectrum of a nonsense mutation in KAT6A: a case report

KAT6A syndrome is an autosomal dominant genetic disorder associated with intellectual disability due to mutations in the lysine acetyltransferase 6A (KAT6A) gene. There are some differences in phenotype between KAT6A gene variants. This current case report describes a 1-month-old male infant that ha...

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Detalles Bibliográficos
Autores principales: Wang, Dongbo, He, Jun, Li, Xueyi, Yan, Shuyuan, Pan, Linglin, Wang, Tuanmei, Zhou, Liangrong, Liu, Jiyang, Peng, Xiangwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9806384/
https://www.ncbi.nlm.nih.gov/pubmed/36573038
http://dx.doi.org/10.1177/03000605221140304

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9806384/
https://www.ncbi.nlm.nih.gov/pubmed/36573038
http://dx.doi.org/10.1177/03000605221140304

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