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Paper Details

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
13
2021
4q13, ANKRD17, ANKRD17 loss-of-function variants, ANKRD17 variants, Drosophila, ankyrin repeat-containing protein, ankyrin repeats, developmental delay, dysmorphic facial features, dysmorphism, epilepsy, growth failure, haploinsufficiency, human, in-frame insertion-deletion, intellectual disability, joint hypermobility, microdeletion, missense variants, multi-gene, multi-gene chromosomal aberrations, neurodevelopmental disorder, ophthalmological abnormalities, single, speech delay
Author NameAffiliation
Jill Clayton-SmithUniversity of Manchester, St Mary's Hospital
Elizabeth Martina BebinUniversity of Alabama at Birmingham
Anne Slavotinek
Anne Slavotinek
William A WeissUniversity of California san francisco
William A WeissUniversity of California san francisco
Ingo HelbigChildren's Hospital of Philadelphia, University of Pennsylvania, Perelman School of Medicine
Damian SmedleyWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London
Anna de Burca
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