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    c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report

    c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report by Talyta Alves da Silva Campos, Alex Honda Bernardes, Irene Plaza Pinto, Hiane Aparecida da Silva Teixeira, Juliana Ferreira da Silva, Victor Cortázio do Prado Santos, Raffael Zatarin, Aparecido Divino da Cruz

    Published 2025-08-01
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