Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome

RABGAP1 is a GTPase-activating protein implicated in a variety of cellular and molecular processes, including mitosis, cell migration, vesicular trafficking, and mTOR signaling. There are no known Mendelian diseases caused by variants in RABGAP1. Through GeneMatcher, we identified 5 patients from 3...

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Veröffentlicht in:	Genetics in medicine 2022-11, Vol.24 (11), p.2399-2407
Hauptverfasser:	Oh, Rachel Youjin, Deshwar, Ashish R., Marwaha, Ashish, Sabha, Nesrin, Tropak, Michael, Hou, Huayun, Yuki, Kyoko E., Wilson, Michael D., Rump, Patrick, Lunsing, Roelineke, Elserafy, Noha, Chung, Clara W.T., Hewson, Stacy, Klein-Rodewald, Tanja, Calzada-Wack, Julia, Sanz-Moreno, Adrián, Kraiger, Markus, Marschall, Susan, Fuchs, Helmut, Gailus-Durner, Valerie, Hrabe de Angelis, Martin, Dowling, James, Schulze, Andreas
Format:	Artikel
Sprache:	eng
Schlagworte:	Autosomal recessive GTPase-activating protein Neurodevelopmental syndrome Novel Mendelian disorder
Online-Zugang:	Volltext
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