Article
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Human mutation - 1 Mar 2020
Yigit Gökhan, Saida Ken, DeMarzo Danielle, Miyake Noriko, Fujita Atsushi, Yang Tan Tiong, White Susan M, Wadley Alexandrea, Toliat Mohammad R, Motameny Susanne, Franitza Marek, Stutterd Chloe A, Chong Pin F, Kira Ryutaro, Sengoku Toru, Ogata Kazuhiro, Guillen Sacoto Maria J, Fresen Christine, Beck Bodo B, Nürnberg Peter, Dieterich Christoph, Wollnik Bernd, Matsumoto Naomichi, Altmüller Janine
Abstract excerpt
RHOA is a member of the Rho family of GTPases that are involved in fundamental cellular processes including cell adhesion, migration, and proliferation. RHOA can stimulate the formation of stress fibers and focal adhesions and is a key regulator of actomyosin dynamics in various tissues. In a Genematcher-facilitated collaboration, we were able to identify four unrelated individuals with a specific phenotype...
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