@article{f2ddbc83b5614b039f1215ac9a0077be,
title = "Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome",
abstract = "A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth.",
keywords = "Actins, Adolescent, Child, Child, Preschool, Denmark, Ductus Arteriosus, Patent, Fatal Outcome, Humans, Muscle, Smooth, Mutation, Missense, Mydriasis, Pupil Disorders, Retinal Artery, Syndrome",
author = "Moller, {Hans Ulrik} and Fledelius, {Hans C} and Milewicz, {Dianna M} and Regalado, {Ellen S} and Ostergaard, {John R}",
year = "2012",
doi = "10.1136/bjophthalmol-2011-301462",
language = "English",
volume = "96",
pages = "1227--31",
journal = "British Journal of Ophthalmology",
issn = "0007-1161",
publisher = "B M J Group",
number = "9",
}