Reference
Avila, M., et al. “Clinical Reappraisal of SHORT Syndrome With PIK3R1 Mutations: Toward Recommendation for Molecular Testing and Management”. Clinical Genetics, vol. 89, no. 4, Oct. 2015, pp. 501–506, https://doi.org/10.1111/cge.12688.
PubMed Reference Number (PMID)
26497935