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PTCHD1 Gene Mutation/deletion: the Cognitive-Behavioral Phenotyping of Four Case Reports

Federica Alice Maria Montanaro,Alessandra Mandarino,Viola Alesi,Charles Schwartz,Daniela Judith Claps Sepulveda,Cindy Skinner,Michael Friez,Gabriele Piccolo,Antonio Novelli,Ginevra Zanni,Maria Lisa Dentici,Stefano Vicari,Paolo Alfieri

FRONTIERS IN PSYCHIATRY（2024）

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关键词
PTCHD1 gene,intellectual disability,autism spectrum disorder,rare genetic syndrome,cognitive-behavioral phenotype
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