Associated Papers
Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the KIFBP Gene.
Ozyavuz Cubuk P
Molecular Syndromology, 2021
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
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
Valence S et al.
Neurogenetics, 2013
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.
Bruno DL et al.
Human Mutation, 2011
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