Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

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 n...

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Detalles Bibliográficos
Publicado en:Hum Mutat
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2020
Assuntos:
Research Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7693350/
https://ncbi.nlm.nih.gov/pubmed/32939943
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24097
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