CKAP2L mutation confirms the diagnosis of Filippi syndrome
| Autor: | Margherita Baldassarri, Salvatore Grosso, E. Guidoni, Maddalena Cioni, M.A. Mencarelli, Peter Nürnberg, G. Capecchi, S. Ferranti, Alessandra Renieri |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Microcephaly 030105 genetics & heredity 03 medical and health sciences Intellectual Disability Intellectual disability Genetics Humans Medicine Syndactyly Cytoskeletal Proteins Facies Growth Disorders Infant Mutation Genetics (clinical) business.industry medicine.disease 030104 developmental biology Filippi syndrome Mutation (genetic algorithm) business |
| Zdroj: | Clinical Genetics. 93:1109-1110 |
| ISSN: | 0009-9163 |
| DOI: | 10.1111/cge.13188 |
| Databáze: | OpenAIRE |
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