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Paper Details

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
19
2021
AFF1, AFF2, AFF3, AFF3- and AFF4-associated syndromes, AFF4, AFF4-, ALF transcription factor paralogs, ALF transcription factors, Aff3, CHOPS syndrome, KINSSHIP, KINSSHIP syndrome, NS, Nievergelt/Savarirayan type, amino acid, autosomal dominant disorder, brain malformations, degron, early, epileptic encephalopathy, horseshoe, horseshoe kidney, hypertrichosis, intellectual disability, kidney defects, lethality, mesomelic dysplasia, mesomelic limb deformities, mice, missense variants, neurological anomalies, seizures, skeletal anomalies, transcriptional super elongation complex, ubiquitin ligase, zebrafish
Author NameAffiliation
Sofia DouzgouSt Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, University of Manchester
Susan M HiattHudsonAlpha Institute for Biotechnology
Dawn Earl
Elizabeth Martina BebinUniversity of Alabama at Birmingham
Gregory M CooperHudsonAlpha Institute for Biotechnology
Gregory M CooperHudsonAlpha Institute for Biotechnology
Ganka Douglas
Anna C E HurstUniversity of Alabama at Birmingham
Sylvain PradervandCenter for Integrative Genomics, University of Lausanne, Switzerland Institute for Maternal and Child Health - IRCCS Burlo Garofolo
Marketa VlckovaCharles University Second Faculty of Medicine and University Hospital Motol
Kenjiro KosakiCenter for Medical Genetics, Keio University School of Medicine
Stefan MundlosMax Planck Institute for Molecular Genetics, Germany Institute for Medical and Human Genetics, Charite Universitatsmedizin Berlin
Wendy K ChungColumbia University
Wendy K ChungColumbia University
Alexandre ReymondCenter for Integrative Genomics, University of Lausanne
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