Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

Avila, M., Dyment, D. A., Sagen, J. V., St-Onge, J., Moog, U., Chung, B. H. Y., Mo, S., Mansour, S., Albanese, A., Garcia, S., Martin, D. L., Lopez, A. A., and 33 others. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Clin. Genet. 89: 501-506, 2016.