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- W4387054331 abstract "Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the tumor suppressor gene PTCH1 with complete penetrance and variable expressivity characterized by a broad spectrum of developmental anomalies and a predisposition to neoplasms. Herein, we report a novel de novo splice site mutation in the PTCH1 gene related to mild developmental delay and autistic traits in a 4-year-old male patient." @default.
- W4387054331 created "2023-09-27" @default.
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- W4387054331 date "2023-09-26" @default.
- W4387054331 modified "2023-10-13" @default.
- W4387054331 title "A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report" @default.
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- W4387054331 doi "https://doi.org/10.1038/s41439-023-00254-9" @default.
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