Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report
Autor: | Anna Guacci, Giovanna Marchese, Giangennaro Coppola, Francesca Rizzo, Alessandro Weisz |
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Jazyk: | angličtina |
Rok vydání: | 2016 |
Předmět: |
0301 basic medicine
Genetics KCNQ2 Mutation EHMT1 Whole exome sequencing Dermatology General Medicine 030105 genetics & heredity Biology medicine.disease_cause 03 medical and health sciences Psychiatry and Mental health 030104 developmental biology Kleefstra syndrome Next generation sequencing medicine Neurology (clinical) Gene Exome Exome sequencing Kleefstra Syndrome |
Databáze: | OpenAIRE |
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