Associated Papers
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction.
Farley KO et al.
Hgg Advances, 2024
38007613 (PubMed )
Supplement: mmc2.xlsx › Table_S2
PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene.
Pastore SF et al.
Genes, 2022
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Chaudhry A et al.
Clinical Genetics, 2015
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