Publications

Goldberg RB, Shprintzen RJ. Hirschsprung megacolon and cleft palate in two sibs. J Craniofac Genet Dev Biol. 1981;1(2):185-9. PMID: 7338549.

Brooks AS, et al. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am J Hum Genet. 2005 Jul;77(1):120-6. PMID: 15883926.

Drévillon L, et al. KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. Hum Mol Genet. 2013 Jun 15;22(12):2387-99. PMID: 23427148.

Dafsari HS, et al. Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy. Am J Med Genet A. 2015 Jun;167(6):1300-4. PMID: 25846562.

MacKenzie KC, et al. Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. Hum Mutat. 2020 Nov;41(11):1906-1917. PMID: 32939943.