Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains
| Autor: | Thomas Eggermann, Matthias Begemann, Lutz Pfeiffer |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Adult Male Heterozygote Beckwith-Wiedemann Syndrome Matricaria 11p15.5 deletion Beckwith–Wiedemann syndrome 030105 genetics & heredity Biology 03 medical and health sciences Genomic Imprinting Insulin-Like Growth Factor II Genetics medicine Humans Imprinting (psychology) Allele Paternal Inheritance Molecular Biology Gene Genetics (clinical) Alleles KCNQ1 Research IGF2 IC2 hypomethylation DNA Methylation medicine.disease Phenotype Human genetics Pedigree Silver-Russell Syndrome 030104 developmental biology KCNQ1 Potassium Channel Female Developmental Biology |
| Zdroj: | Clinical Epigenetics Clinical epigenetics 13, 30 (2021). doi:10.1186/s13148-021-01020-w |
| ISSN: | 1868-7083 1868-7075 |
| Popis: | Clinical epigenetics 13, 30 (2021). doi:10.1186/s13148-021-01020-w Published by BioMed Central, [S.l.] |
| Databáze: | OpenAIRE |
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