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1. Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome.

Author

Sripathomsawat W, Tanpaiboon P, Heering J, Dötsch V, Hennekam RC, and Kantaputra P

Subjects
Cleft Lip genetics, Cleft Lip pathology, Cleft Palate genetics, Cleft Palate pathology, DNA Mutational Analysis, Ectodermal Dysplasia genetics, Ectodermal Dysplasia pathology, Humans, Infant, Mutation, Missense genetics, Netherlands, Pedigree, Thailand, Tooth Abnormalities pathology, Trans-Activators chemistry, Transcription Factors, Tumor Suppressor Proteins chemistry, Urination Disorders pathology, Models, Molecular, Phenotype, Tooth Abnormalities genetics, Trans-Activators genetics, Tumor Suppressor Proteins genetics, Urination Disorders genetics
Published
2011
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