G90.1: Sindrom Dysautonomia Familial [Riley-Day]

Axelrod FB, Goldberg JD, Ye XY, et al. Survival and clinical outcomes in children with familial dysautonomia: a single-center experience. Pediatrics. 2021;147(3):e2020019709.

Norcliffe-Kaufmann L, Kaufmann H. Familial dysautonomia (Riley-Day syndrome). Handb Clin Neurol. 2020;171:69-86.

Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2021;68(3):598-605.

Gold-von Simson G, Axelrod FB. Familial dysautonomia: update and clinical advances. Curr Opin Pediatr. 2020;32(5):658-664.

Mendoza-Santiesteban CE, Palma JA, Hedges TR, et al. Clinical neuro-ophthalmic findings in familial dysautonomia. J Neuroophthalmol. 2022;42(1):e1-e7.

Palma JA, Norcliffe-Kaufmann L, Kaufmann H. Diagnosis of familial dysautonomia: a 25-year retrospective. J Neurol. 2019;266(12):2923-2930.

Hajjar I, Kotagal M, Jao CS, Norcliffe-Kaufmann L. Cardiovascular autonomic dysfunction in familial dysautonomia: a 20-year follow-up study. Clin Auton Res. 2021;31(2):245-253.