Article
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Human mutation - 1 Nov 2020
MacKenzie Katherine C, de Graaf Bianca M, Syrimis Andreas, Zhao Yuying, Brosens Erwin, Mancini Grazia M S, Schot Rachel, Halley Dicky, Wilke Martina, Vøllo Arve, Flinter Frances, Green Andrew, Mansour Sahar, Pilch Jacek, Stark Zornitza, Zamba-Papanicolaou Eleni, Christophidou-Anastasiadou Violetta, Hofstra Robert M W, Jongbloed Jan D H, Nicolaou Nayia, Tanteles George A, Brooks Alice S, Alves Maria M
Abstract excerpt
Goldberg-Shprintzen syndrome (GOSHS) is caused by loss of function variants in the kinesin binding protein gene (KIFBP). However, the phenotypic range of this syndrome is wide, indicating that other factors may play a role. To date, 37 patients with GOSHS have been reported. Here, we document nine new patients with variants in KIFBP: seven with nonsense variants and two with missense variants. To our knowledge,...
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