Marion Beltramone's scientific contributions

Publications (7)

Citations

... 8,9 Defects in the AC, hippocampal commissures, and corpus callosum can result in DD phenotypes in humans, including the dyspraxia seen in this report in a patient with KS due to an ARH-GAP35 PTV. 7,43,44 In addition, a mouse model with the variant ARHGAP35 p.L1396Q showed hypoplastic and/or glomerulocystic kidneys, 23 which has not been observed in our IHH cohort or other animal models. 7 Further examination of reproductive, renal, and neuronal phenotypes across animal models, humans, and ARHGAP35 variant type are needed to dissect the observed pleiotropy. ...