Compound effect ofPHOX2BandRETgene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease
| Autor: | E. Paditz, Guido Fitze, Andreas Ziegler, Dietmar Roesner, Marianne E. Schläfke, Inke R. König, Hans K. Schackert, Alexandre Serra |
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| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty Pathology Ret gene Genotype Disease Congenital central hypoventilation syndrome Cohort Studies Gene Frequency Internal medicine Genetics medicine Humans Hirschsprung Disease Frameshift Mutation Germ-Line Mutation Genetics (clinical) Colonic disease Homeodomain Proteins Polymorphism Genetic business.industry Proto-Oncogene Proteins c-ret Hypoventilation Sequence Analysis DNA Syndrome medicine.disease Endocrinology Female Congenital disease business Transcription Factors |
| Zdroj: | American Journal of Medical Genetics Part A. :1486-1489 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.32300 |
| Databáze: | OpenAIRE |
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