Article

Complex genetic network underlying the convergent of Rett Syndrome like (RTT-L) phenotype in neurodevelopmental disorders

2020-01-14

Abstract excerpt

Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 ( MECP2 ) cause classical forms of Rett syndrome (RTT) in girls. Patients with features of classical Rett syndrome, but do not fulfill all the diagnostic criteria (e.g. absence of a MECP2 mutation), are defined as atypical Rett syndrome. Genes encoding for cyclin-dependent kinase-like 5 ( CDKL5 ) and forkhead box G1 (FOXG1) are more commonly f...

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Literature Corpus work: 7014ab62-990d-5d03-a02c-7c8e58137873
DOI: 10.1101/2020.01.11.899658

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