Skip to Main Content

Paper Details

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by <i>SHANK3</i> point mutations.
Mol Autism
115
2018
22q13, Arg1255Leufs, Haploinsufficiency of SHANK3, PMS, Phelan-McDermid syndrome, SHANK3, SHANK3 haploinsufficiency, SHANK3 mutations, SHANK3 variants, autism spectrum disorder, brain abnormalities, dysmorphic features, hypotonia, intellectual disability, motor deficits, motor skill deficits, neurodevelopmental disorder, patients, regression, renal abnormalities, seizures, speech deficits, speech impairment
Author NameAffiliation
Silvia De RubeisIcahn School of Medicine at Mount Sinai
Silvia De RubeisIcahn School of Medicine at Mount Sinai
Catalina BetancurSorbonne Universite, INSERM, CNRS, Institut de Biologie Paris Seine
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D Buxbaum9Friedman Brain Institute, Icahn School of Medicine at Mount Sinai
Joseph D Buxbaum10Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D Buxbaum9Friedman Brain Institute, Icahn School of Medicine at Mount Sinai
Joseph D Buxbaum10Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Alexander KolevzonIcahn School of Medicine at Mount Sinai
Alexander KolevzonIcahn School of Medicine at Mount Sinai
Alexander KolevzonIcahn School of Medicine at Mount Sinai
Alexander Kolevzon10Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
  • 1 - 19

Datasets

Release 1.2