Prenatal and postnatal diagnosis of Phelan–McDermid syndrome: A report of 21 cases from a medical center and review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.961196
Abstract: Background: Phelan–McDermid syndrome (PMS), caused by deletions at 22q13.3 and pathogenic variants in the SHANK3 gene, is a rare developmental disorder characterized by hypotonia, developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD), dysmorphic… read more here.
Keywords: shank3 gene; phelan mcdermid; pms; review literature ... See more keywords
40-Hz Auditory Steady-State Response (ASSR) as a Biomarker of Genetic Defects in the SHANK3 Gene: A Case Report of 15-Year-Old Girl with a Rare Partial SHANK3 Duplication
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22041898
Abstract: SHANK3 encodes a scaffold protein involved in postsynaptic receptor density in glutamatergic synapses, including those in the parvalbumin (PV)+ inhibitory neurons—the key players in the generation of sensory gamma oscillations, such as 40-Hz auditory steady-state… read more here.
Keywords: assr; shank3 gene; steady state; auditory steady ... See more keywords