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Molly & Robbie
January 2025

Novel Phenotypes and Genotype-Phenotype Correlations in Patients with Kleefstra Syndrome

A retrospective chart review performed on 65 patients with Kleefstra Syndrome evaluated at the BCH Kleefstra clinic uncovered novel phenotypes and genotype-phenotype correlations. This information may be useful for guiding clinical care and informing future research and therapeutic initiatives.

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