MECP2-related conditions in males: A systematic literature review and 8 additional cases.

doi:10.1016/j.ejpn.2021.05.013

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Article

MECP2-related conditions in males: A systematic literature review and 8 additional cases.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2021

Inuzuka Luciana Midori, Guerra-Peixe Matheus, Macedo-Souza Lúcia Inês, Pedreira Christiane Cobas, Gurgel-Giannetti Juliana, Monteiro Fabiola Paoli, Ramos Luiza, Costa Larissa Athayde, Crippa Ana Chrystina de Souza, Lourenco Charles Marques, Pachito Daniela Viana, Sukys-Claudino Lucia, Gaspar Leonardo Salvador, Antoniuk Sergio Antonio, Dutra Luis Paulo de Souza, Diniz Sabrina Stephanie Lana, Pires Rafaelle Batistella, Garzon Eliana, Kok Fernando

Abstract excerpt

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 variant. We searched in Medline (Pubmed) and Embase to collect all articles which included well-characterized males with a single copy of MECP2 carrying a...

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PMID: 34271245
DOI: 10.1016/j.ejpn.2021.05.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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