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Paper Details

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Am J Med Genet A
7
2021
69dupC, DD, Gly24ArgfsTer48, ID, NM_025160, Skraban-Deardorff syndrome, Trp359Ter, WDR26, WDR26 gene, WDR26 loss-of-function variants, abnormal facial features, autosomal dominant neurodevelopmental disorder, c.1076G, c.1076G>A, p, child, developmental delay, haploinsufficiency, intellectual disability, patient, seizures, skeletal anomalies
Author NameAffiliation
Francesca Clementina RadioIRCCS
Marco TartagliaIRCCS
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Silvia De RubeisFriedman Brain Institute, Icahn School of Medicine at Mount Sinai
Silvia De RubeisThe Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Silvia De RubeisIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumThe Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumFriedman Brain 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 BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumThe Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumFriedman Brain 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
Giovanni Battista FerreroUniversity of Turin
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