title: Large Pupils in Infancy. . .Suspected Aniridia. Multisystemic smooth muscle dysfunction syndrome secondary to an ACTA2 mutation.
authors.forename: Helen H
authors.initials: HH
authors.lastname: Yeung
mesh_terms: D000199:Actins / Q000235:genetics*; D015783:Aniridia / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities*; D009130:Muscle, Smooth / Q000473:pathology*; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics; D020125:Mutation, Missense; D011680:Pupil; D011681:Pupil Disorders / Q000175:diagnosis* / Q000235:genetics
chemical_list: C541116:ACTA2 protein, human; D000199:Actins