A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10170
Abstract: With the rapid development of genetic detection technology, especially next‐generation sequencing, identification of the aetiology of unexplained intellectual disabilities accompanied by seizures and other dysmorphic features has become possible. The purpose of our paper is… read more here.
Keywords: delay seizures; developmental delay; novel novo; severe global ... See more keywords