Article
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Cells - 21 May 2023
Frankel Eric, Podder Avijit, Sharifi Megan, Pillai Roshan, Belnap Newell, Ramsey Keri, Dodson Julius, Venugopal Pooja, Brzezinski Molly, Llaci Lorida, Gerald Brittany, Mills Gabrielle, Sanchez-Castillo Meredith, Balak Chris D, Szelinger Szabolcs, Jepsen Wayne M, Siniard Ashley L, Richholt Ryan, Naymik Marcus, Schrauwen Isabelle, Craig David W, Piras Ignazio S, Huentelman Matthew J, Schork Nicholas J, Narayanan Vinodh, Rangasamy Sampathkumar
Abstract excerpt
Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2) cause classical forms of Rett syndrome (RTT) in girls. A subset of patients who are recognized to have an overlapping neurological phenotype with RTT but are lacking a mutation in a gene that causes classical or atypical RTT can be described as having a 'Rett-syndrome-like phenotype (RTT-L). Here, we report eight patients from our cohort...
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