Disease: Goldberg-Shprintzen megacolon syndrome
- A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)
- Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations
- Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease
- Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy
- Goldberg-Shprintzen syndrome
- Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the <em>KIFBP</em> Gene
- Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP
- Goldberg-Shprintzen syndrome protein KIF1BP is a CITK interactor implicated in cytokinesis
- Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs
- Goldberg-Shprintzen syndrome: report of a new family and review of the literature
- Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23
- Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome
- Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems
- KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation
- KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome
- Kinesin-Binding Protein Controls Microtubule Dynamics and Cargo Trafficking by Regulating Kinesin Motor Activity
- Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)
- Mutations in SCG10 are not involved in Hirschsprung disease
- Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease
- Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome
- Two brothers with Goldberg-Shprintzen syndrome