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Diverse Clinical Presentation of RAC1-Related Intellectual Developmental Disorder
Jariya Upadia1,2, Jiao Liu1,2, Caide Bier1,2
1Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.
None:
RAC1 encodes the protein RAS-related C3 Botulinum Toxin Substrate 1 (RAC1), which plays a pivotal role in various cellular functions. Pathogenic variants in RAC1 are linked to the rare intellectual developmental disorder, autosomal-dominant 48 (MRD48). We present one case with typical phenotype and two cases with a mild phenotype. This report expands the phenotypic spectrum of MRD48.
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