De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase‐activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual disability (ID). We identified 10 previously unreported individuals with SYNGAP1 DNM; seven via the Deciphering Developmental Disorders (DDD) Study,...

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Bibliographic Details
Main Authors: Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo‐Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, study, DDD, FitzPatrick, David R.
Format: Online
Language:English
Published: John Wiley and Sons Inc. 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744742/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744742/

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