Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Daniela Viana Pachito"'
Autor:
Luiza Ramos, Lucia Sukys-Claudino, Luciana Midori Inuzuka, Sérgio A. Antoniuk, Rafaelle Batistella Pires, Sabrina Stephanie Lana Diniz, Fernando Kok, Lúcia Inês Macedo-Souza, Charles Marques Lourenço, Christiane C. Pedreira, Daniela Viana Pachito, Fabíola Paoli Monteiro, Leonardo Salvador Gaspar, Larissa Sampaio de Athayde Costa, Eliana Garzon, Matheus Guerra-Peixe, Ana Chrystina de Souza Crippa, Juliana Gurgel-Giannetti, Luis Paulo de Souza Dutra
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 34
Objective To present a cohort of 8 males and perform a systematic review of all published cases with a single copy of MECP2 carrying a pathogenic variant. Methods We reviewed medical records of males with a single copy of MECP2 carrying a pathogenic