Ontology highlight
ABSTRACT:
SUBMITTER: Hirst CS
PROVIDER: S-EPMC5709403 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Hirst Caroline S CS Stamp Lincon A LA Bergner Annette J AJ Hao Marlene M MM Tran Mai X MX Morgan Jan M JM Dutschmann Matthias M Allen Andrew M AM Paxinos George G Furlong Teri M TM McKeown Sonja J SJ Young Heather M HM
Scientific reports 20171130 1
Goldberg-Shprintzen syndrome is a poorly understood condition characterized by learning difficulties, facial dysmorphism, microcephaly, and Hirschsprung disease. GOSHS is due to recessive mutations in KIAA1279, which encodes kinesin family member 1 binding protein (KIF1BP, also known as KBP). We examined the effects of inactivation of Kif1bp in mice. Mice lacking Kif1bp died shortly after birth, and exhibited smaller brains, olfactory bulbs and anterior commissures, and defects in the vagal and ...[more]