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CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations
L Basel-Vanagaite, M Pasmanik-Chor, R Lurie, A Yeheskel,
Klaus Wilbrandt Kjær
Institut for Cellulær og Molekylær Medicin
14
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Keyphrases
CDH3
100%
CDH3 Gene
100%
Hypotrichosis with Juvenile Macular Dystrophy
80%
Ectrodactyly
20%
Phenotypic Continuum
20%
ConSurf
20%
Gene mutation Assay
20%
Biochemistry, Genetics and Molecular Biology
Genotype Phenotype Correlation
100%
Gene Mutation
60%
Protein Structure
40%
Genetic Counseling
40%
Dysplasia
20%
Cadherin
20%
Medicine and Dentistry
Macular Degeneration
100%
Hypotrichosis
80%
Syndactyly
20%
Ectrodactyly
20%
Pharmacology, Toxicology and Pharmaceutical Science
Macular Degeneration
83%
Hypotrichosis
66%
Ectrodactyly
16%
Syndactyly
16%
Ectodermal Dysplasia
16%