Genotype–Phenotype Correlations in Angelman Syndrome

Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the chromosome 15q11–13 region. AS is characterized by global developmental delay, severe intellectual disability, lack of speech, happy...

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Detalles Bibliográficos
Autores principales: Yang, Lili, Shu, Xiaoli, Mao, Shujiong, Wang, Yi, Du, Xiaonan, Zou, Chaochun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8304328/
https://www.ncbi.nlm.nih.gov/pubmed/34203304
http://dx.doi.org/10.3390/genes12070987

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8304328/
https://www.ncbi.nlm.nih.gov/pubmed/34203304
http://dx.doi.org/10.3390/genes12070987

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