title: Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City2Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City.
authors.forename: Katrina
authors.initials: K
authors.lastname: Mears
authors.affiliation: Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City2Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Bakall
authors.affiliation: Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City2Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City.
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Harney
authors.affiliation: Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City2Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City.
authors.forename: Jessica A
authors.initials: JA
authors.lastname: Penticoff
authors.affiliation: Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City2Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City3Howard Hughes Medical Institute, University of Iowa, Iowa City.
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
mesh_terms: D002648:Child; D019066:Facies; D005451:Fluorescein Angiography; D017353:Gene Deletion; D006801:Humans; D016547:Kinesins / Q000235:genetics*; D008209:Lymphedema / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D015792:Retinal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
chemical_list: C470243:KIF11 protein, human; D016547:Kinesins