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Paper Details

Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
Hum Genet
0
2023
13q34 deletion, CHAMP1, CHAMP1 disorder, CHAMP1 gene, CHAMP1 haploinsufficiency, dysmorphic features, genetic neurodevelopmental condition, intellectual disability, medical comorbidities, premature termination codons
Author NameAffiliation
Alexander KolevzonSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Alexander KolevzonIcahn School of Medicine at Mount Sinai
Alexander KolevzonThe Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Alexander KolevzonIcahn 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 BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumDepartment of Neuroscience and Friedman Brain Institute, Icahn 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 BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumDepartment of Neuroscience and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai
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