Carvalho DR, Medeiros JEG, Ribeiro DSM, Martins BJ, Sobreira NLM. Additional features of Gillespie syndrome in two brazilian siblings with a novel ITPR1 homozygous pathogenic variant. Eur J Med Genet. 2017 Nov 20. pii: S1769-7212(17)30401-9. doi: 10.1016/j.ejmg.2017.11.005.
PubMed ID:
29169895