Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results

Autor: Gerald, Brittany, Ramsey, Keri, Belnap, Newell, Szelinger, Szabolcs, Siniard, Ashley L., Balak, Chris, Russell, Megan, Richholt, Ryan, De Both, Matt, Claasen, Ana M., Schrauwen, Isabelle, Huentelman, Matthew J., Craig, David W., Rangasamy, Sampathkumar, Narayanan, Vinodh
Zdroj: In Seminars in Pediatric Neurology July 2018 26:28-32
Databáze: ScienceDirect
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