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CASP2 Biallelic Truncating Variants: a New Case Supports the Link with Lissencephaly/pachygyria and Expands the Clinical Spectrum

Ilaria Vivaldi, Marco Imperi,Maria Giovanna Tedesco, Elisa Vinciarelli, Eleonora Chiarotto,Davide Colavito, Michela Cecconi,Teresa Anna Cantisani,Paolo Prontera

European journal of human genetics EJHG(2024)

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