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Scientific article
English

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

ContributorsEuroEPINOMICS-RES MAE working group
CollaboratorsMignot, Cyril; von Stülpnagel, Celina; Korff, Christian
Published inJournal of Medical Genetics, vol. 53, no. 8, p. 511-522
Publication date2016
Abstract

We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations.

Citation (ISO format)
EuroEPINOMICS-RES MAE working group. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. In: Journal of Medical Genetics, 2016, vol. 53, n° 8, p. 511–522. doi: 10.1136/jmedgenet-2015-103451
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ISSN of the journal0022-2593
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