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SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study

Abstract Phelan-McDermid syndrome (PMS) is a relatively frequent cause of syndromic intellectual disability (ID) and autism spectrum disorder (ASD). It is typically caused by genetic alterations in the 22q13 chromosomal region, most often involving heterozygous deletions or mutations in the SHANK3 g...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: Jessica Pagano, Andrea Perez Arevalo, Anastasia Nosanova, Helen Friedericke Bauer, Eva Loth, Stephanie Andres, Felicitas Becker, Markus Otto, Alessia Stefanoni, Chiara Verpelli, Patrick Oeckl, Michael Schön, Tobias Boeckers
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Nature Publishing Group 2026-03-01
Rangatū:Translational Psychiatry
Urunga tuihono:https://doi.org/10.1038/s41398-026-03932-8
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