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Paper Details

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
23
2019
ASD, ASDs, DD, ID, Neurodevelopmental disorders, Patients, Potocki-Lupski syndrome, RAI1, Smith-Magenis syndrome, TAND, TCF20, TCF20 pathogenic variants, autism spectrum disorders, canonical splice-site variant, developmental delay, dosage-sensitive gene, dysmorphic features, hypotonia, indels, intellectual disability, loss-, loss-of-function alleles, movement disorders, neurological impairments, pathogenic variant alleles, patients, structural brain abnormalities
Author NameAffiliation
Matthew PastoreNationwide Children's Hospital and Department of Pediatrics, College of Medicine, Ohio State University
Lihadh Al-GazaliCollege of Medicine & Health Sciences, United Arab University
Soo-Mi ParkAddenbrooke's Hospital
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Jennifer E PoseyBaylor College of Medicine
Weimin Bi
Weimin BiBaylor College of Medicine
Seema R Lalani
Seema R LalaniTexas Children's Hospital
Seema R LalaniBaylor College of Medicine
Yaping Yang
Yaping YangBaylor College of Medicine
James R Lupski
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R Lupski
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
Pengfei Liu
Pengfei LiuBaylor College of Medicine
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