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Paper Details

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
37
2019
ASD, DD, DD/, GERD, Haploinsufficiency of USP7, ID, MAGEL2, MUST, TRIM27, USP7, USP7 haploinsufficiency, USP7 variant, USP7 variants, actin, autism spectrum disorder, behavioral anomalies, chromosome 16p13, developmental delay, eye anomalies, hypogonadism, hypotonia, intellectual disability, neurodevelopmental disorder, neurologic anomalies, seizures, speech delays, white matter
Author NameAffiliation
Manuel HoltgreweBerlin Institute of Health
Thomas M MorganVanderbilt University School of Medicine
Jean P PfotenhauerVanderbilt University School of Medicine
Weimin BiBaylor College of Medicine
Ian D KrantzChildren's Hospital of Philadelphia
Ian D KrantzPerelman School of Medicine, University of Pennsylvania
Denise HornInstitute for Medical Genetics and Human Genetics
Rebecca C SpillmannDuke University School of Medicine
Loren D M PenaCincinnati Children's Hospital Medical Center
Tim M StromInstitute of Human Genetics, Technische Universitat Munchen
Tim M StromInstitute of Human Genetics, German Research Center for Environmental Health
Nadja EhmkeInstitut fur Medizinische Genetik und Humangenetik, Charite-Universitatsmedizin Berlin
Nadja EhmkeBerlin Institute of Health (BIH)
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