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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Опубликовано в: :Hum Mutat
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2020
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Research Articles
Online-ссылка: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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