Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism

BACKGROUND: Angelman syndrome (AS) occurs due to a lack of expression or function of the maternally inherited UBE3A gene. Individuals with AS typically have significant developmental delay, severe speech impairment with absent to minimal verbal language, gait abnormalities including ataxia, and an i...

Descripción completa

Detalles Bibliográficos
Autores principales: Punatar, Ruchi, Egense, Alena, Mao, Rong, Procter, Melinda, Bosworth, Michelle, Quigley, Denise I., Angkustsiri, Kathleen, Shankar, Suma P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544204/
https://www.ncbi.nlm.nih.gov/pubmed/35929060
http://dx.doi.org/10.1002/mgg3.2018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544204/
https://www.ncbi.nlm.nih.gov/pubmed/35929060
http://dx.doi.org/10.1002/mgg3.2018

Ejemplares similares