Psychiatric illness and regression in individuals with Phelan-McDermid syndrome

BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic condition characterized by intellectual disability, speech and language deficits, hypotonia, autism spectrum disorder, and epilepsy. PMS is caused by 22q13.33 deletions or mutations affecting SHANK3, which codes for a critical scaffolding prote...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:J Neurodev Disord
Hlavní autoři: Kohlenberg, Teresa M., Trelles, M. Pilar, McLarney, Brittany, Betancur, Catalina, Thurm, Audrey, Kolevzon, Alexander
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7014655/
https://ncbi.nlm.nih.gov/pubmed/32050889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s11689-020-9309-6
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky