Keyphrases
Missense mutation
100%
P-cadherin
100%
CDH3
100%
Hypotrichosis with Juvenile Macular Dystrophy
100%
Pathophysiology
14%
Conserved Residues
14%
Coding Sequence
14%
Electrophysiological Study
14%
DNA Sequence Analysis
14%
Scanning Electron Microscopy
14%
Amino Acid Substitution
14%
Frameshift mutation
14%
Autosomal Recessive
14%
Consanguineous Family
14%
Blindness
14%
All-affected
14%
Macula
14%
Recessive mutation
14%
Single Amino Acid Substitution
14%
Pigment Epithelium
14%
Degenerative Changes
14%
Ca2+ Binding
14%
Homozygous Missense mutation
14%
Hair Loss
14%
Retinal Dysfunction
14%
Eye Fundus
14%
Fundus Examination
14%
Pili Torti
14%
Macular pigment
14%
Proximate Cause
14%
CDH3 Gene
14%
Hair Shaft Abnormalities
14%
Medicine and Dentistry
Macular Degeneration
100%
Missense Mutation
100%
Hypotrichosis
100%
P Cadherin
100%
Amino Acid Substitution
28%
Disease
14%
Diagnosis
14%
Pathophysiology
14%
Calcium Ion
14%
Scanning Electron Microscopy
14%
Autosomal Recessive Disorder
14%
Morphology
14%
DNA Sequence
14%
Amaurosis
14%
Visual Pigment
14%
Fundus (Eye)
14%
Pilus
14%
Pigment Epithelium
14%
Macula of Retina
14%
Biochemistry, Genetics and Molecular Biology
Missense Mutation
100%
Cadherin
100%
Amino Acid Substitution
50%
DNA Sequence
25%
Morphology
25%
Autosomal Recessive Disorder
25%
Binding Domain
25%
Scanning Electron Microscopy
25%
CDH3 (Gene)
25%