title: Intra-familial phenotype variability in patients with Jalili syndrome.
authors.affiliation: Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
authors.forename: C
authors.initials: C
authors.lastname: Gerth-Kahlert
authors.affiliation: 1] Institute of Medical Molecular Genetics, Zurich, Switzerland [2] Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland.
authors.forename: B
authors.initials: B
authors.lastname: Seebauer
authors.affiliation: 1] Institute of Medical Molecular Genetics, Zurich, Switzerland [2] Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland.
authors.forename: S
authors.initials: S
authors.lastname: Dold
authors.affiliation: Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
authors.forename: J V M
authors.initials: JV
authors.lastname: Hanson
authors.affiliation: Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
authors.forename: H
authors.initials: H
authors.lastname: Wildberger
authors.affiliation: Clinic of Orthodontics and Paediatric Dentistry, Center of Dental Medicine, Zurich, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Spörri
authors.affiliation: Clinic of Orthodontics and Paediatric Dentistry, Center of Dental Medicine, Zurich, Switzerland.
authors.forename: H
authors.initials: H
authors.lastname: van Waes
authors.affiliation: 1] Institute of Medical Molecular Genetics, Zurich, Switzerland [2] Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland [3] Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
authors.forename: W
authors.initials: W
authors.lastname: Berger
mesh_terms: D000293:Adolescent; D000567:Amelogenesis Imperfecta / Q000235:genetics* / Q000473:pathology*; D027682:Cation Transport Proteins / Q000235:genetics*; D000071700:Cone-Rod Dystrophies; D004252:DNA Mutational Analysis; D004596:Electroretinography; D014644:Genetic Variation; D006801:Humans; D009154:Mutation; D010641:Phenotype; D012160:Retina / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology*; D035781:Siblings; D041623:Tomography, Optical Coherence
chemical_list: D027682:Cation Transport Proteins; C539261:CNNM4 protein, human