Associated Papers
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
MacKenzie KC et al.
Human Mutation, 2020
Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.
Salehpour S et al.
Iranian Journal of Child Neurology, 2017
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Drévillon L et al.
Human Molecular Genetics, 2013
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Brooks AS et al.
American Journal of Human Genetics, 2005
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