Associated Papers
Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.
Santaniello C et al.
Genes, 2024
Synergistic effects of rare variants of ARHGAP31 and FBLN1 in vitro in terminal transverse limb defects.
Tian H et al.
Frontiers in Genetics, 2022
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN et al.
Human Mutation, 2018
CdGAP/ARHGAP31 is regulated by RSK phosphorylation and binding to 14-3-3β adaptor protein.
Ben Djoudi Ouadda A et al.
Oncotarget, 2018
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Southgate L et al.
American Journal of Human Genetics, 2011
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