A Case Report of Congenital Fixed Dilated Pupils Due to ACTA2 Gene Mutation: Multisystemic Smooth Muscle Dysfunction Syndrome

참고문헌 (5)

1. Kurtul BE, "Bilateral congenital mydriasis in a child case", Turk Pediatri Ars, 51, pp.176~177 (2016)
2. Milewicz DM, "De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction", Am J Med Genet A, 152A, pp.2437~2443 (2010)
3. Roulez FM, "Congenital fixed dilated pupils due to ACTA2-multisystemic smooth muscle dysfunction syndrome", J Neuroophthalmol, 34, pp.137~143 (2014)
4. Moller HU, "Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome", Br J Ophthalmol, 96, pp.1227~1231 (2012)
5. Taubenslag KJ, "Iris anomalies and the incidence of ACTA2 mutation", Br J Ophthalmol, 103, pp.499~503 (2019)

관련 논문AI추천