Global ETD Search
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Showing 1 to 1 of 1 for “"SHORT syndrome"”.
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Mechanistic Investigation of Genotype-Phenotype Correlations in PIK3R1-Related Diseases
… cause diverse disease phenotypes observed in SHORT syndrome (defined by Short stature, Hyperextensibility, Ocular depression, Rieger anomaly and Teething delay), the primary immunodeficiency Activated PI3K-$\delta$ Syndrome 2 (APDS2), and cancer. Initial studies of purified wildtype or mutant …