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

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

Abstract 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,...

Full description

Bibliographic Details
Main Authors: Ruchi Punatar, Alena Egense, Rong Mao, Melinda Procter, Michelle Bosworth, Denise I. Quigley, Kathleen Angkustsiri, Suma P. Shankar
Format: Article
Language:English
Published: Wiley 2022-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Angelman syndrome
case report
expressive language
mosaicism
MS‐MLPA
Online Access:https://doi.org/10.1002/mgg3.2018

Internet

https://doi.org/10.1002/mgg3.2018

Similar Items