PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports

PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports

IntroductionX-linked PTCHD1 gene has recently been pointed as one of the most interesting candidates for involvement in neurodevelopmental disorders (NDs), such as intellectual disability (ID) and autism spectrum disorder (ASD). PTCHD1 encodes the patched domain-containing protein 1 (PTCHD1), which...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Psychiatry
Subjects:
PTCHD1 gene
intellectual disability
autism spectrum disorder
rare genetic syndrome
cognitive-behavioral phenotype
Online Access:https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1327802/full

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https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1327802/full

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