Goldberg-Shprintzen megacolon syndrome is an autosomal recessive disorder caused by mutations of the KIF1BP gene. Clinical feature include intellectual disability, microcephaly, and facial dysmorphy. Dysmorphisms of internal organs include megacolon and urogenital anomalies.
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Brooks AS et al. (2005) Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. |
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Drévillon L et al. (2013) KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. |
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Valence S et al. (2013) Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria. |
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Hurst JA et al. (1988) Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. |
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Goldberg RB et al. (1981) Hirschsprung megacolon and cleft palate in two sibs. |
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Brooks AS et al. (1999) A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). |
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Silengo M et al. (2003) Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. |
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Murphy HR et al. (2006) Two brothers with Goldberg-Shprintzen syndrome. |
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OMIM.ORG article Omim 609460 |
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Orphanet article Orphanet ID 66629 |
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Wikipedia article Wikipedia EN (Goldberg–Shprintzen_syndrome) |