Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.

Autor: Yin, Rui1,2 (AUTHOR), Wack, Maxime1 (AUTHOR), Hassen-Khodja, Claire1 (AUTHOR), McDuffie, Michael T.1 (AUTHOR), Bliss, Geraldine3 (AUTHOR), Horn, Elizabeth J.3 (AUTHOR), Kothari, Cartik1 (AUTHOR), McLarney, Brittany3 (AUTHOR), Davis, Rebecca3 (AUTHOR), Hanson, Kristen3 (AUTHOR), O'Boyle, Megan3 (AUTHOR), Betancur, Catalina4 (AUTHOR) catalina.betancur@inserm.fr, Avillach, Paul1 (AUTHOR) Paul_Avillach@hms.harvard.edu
Zdroj: Molecular Autism. 9/30/2024, Vol. 15 Issue 1, p1-18. 18p.
Databáze: Academic Search Ultimate
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