Isolated maculopathy associated with biallelic CRB1 mutations.
a Division of Ophthalmology , Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , USA.|b Scheie Eye Institute, University of Pennsylvania , Philadelphia , Pennsylvania , USA.
Neepa
N
Shah
a Division of Ophthalmology , Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , USA.|b Scheie Eye Institute, University of Pennsylvania , Philadelphia , Pennsylvania , USA.
Mausam R
MR
Damani
a Division of Ophthalmology , Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , USA.
Xiaosong Sonia
XS
Zhu
c Individualized Medical Genetics Center, Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , USA.
Emma C
EC
Bedoukian
b Scheie Eye Institute, University of Pennsylvania , Philadelphia , Pennsylvania , USA.
Jean
J
Bennett
a Division of Ophthalmology , Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , USA.|b Scheie Eye Institute, University of Pennsylvania , Philadelphia , Pennsylvania , USA.
Albert M
AM
Maguire
a Division of Ophthalmology , Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , USA.|d Department of Ophthalmology & Center for Medical Genetics , Ghent University Hospital & Ghent University , Ghent , Belgium.
Bart P
BP
Leroy
D000293:Adolescent; D000483:Alleles; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004585:Electrooculography; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D055213:Retinal Pigment Epithelium / Q000473:pathology; D017384:Sequence Deletion; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology
C448939:CRB1 protein, human; D005136:Eye Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins