Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.
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| Title: | Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry. |
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| Authors: | 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 |
| Source: | Molecular Autism. 9/30/2024, Vol. 15 Issue 1, p1-18. 18p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 20402392 |
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| DOI: | 10.1186/s13229-024-00619-z |
