Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.

Autor: Carvalho DR; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil. Electronic address: danielcarvalho@sarah.br., Medeiros JEG; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Ribeiro DSM; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Martins BJAF; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Sobreira NLM; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2018 Mar; Vol. 61 (3), pp. 134-138. Date of Electronic Publication: 2017 Nov 21.