Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review

Abstract Background Rett Syndrome (RTT) is a rare, and severe neurodevelopmental disorder that primarily affects females and is primarily (> 96%) due to pathogenic loss-of-function genetic variants of methyl-CpG-binding protein 2 (MECP2). Despite the rarity of the syndrome, sporadic twin cases have...

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Hlavní autoři:	Silvia Boeri, Maria Piai, Silvia Russo, Valentina Alari, Francesca Cogliati, Davide Simonetta, Timothy A. Benke, Lino Nobili, Giulia Prato
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2025-09-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Rett syndrome Monozygotic twins MECP2 X chromosome inactivation Epilepsy
On-line přístup:	https://doi.org/10.1186/s13023-025-03935-6
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