Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 (<i>MECP2</i>) 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 class...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak: Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Keri Ramsey, Julius Dodson, Pooja Venugopal, Molly Brzezinski, Lorida Llaci, Brittany Gerald, Gabrielle Mills, Meredith Sanchez-Castillo, Chris D. Balak, Szabolcs Szelinger, Wayne M. Jepsen, Ashley L. Siniard, Ryan Richholt, Marcus Naymik, Isabelle Schrauwen, David W. Craig, Ignazio S. Piras, Matthew J. Huentelman, Nicholas J. Schork, Vinodh Narayanan, Sampathkumar Rangasamy
Formatua: Artikulua
Hizkuntza:English
Argitaratua: MDPI AG 2023-05-01
Saila:Cells
Gaiak:
Rett syndrome
atypical RTT syndrome
Rett-syndrome-like phenotype
methyl-CpG-binding protein 2
neurodevelopmental disorders
overlapping phenotype
Sarrera elektronikoa:https://www.mdpi.com/2073-4409/12/10/1437

Internet

https://www.mdpi.com/2073-4409/12/10/1437

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