Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 ( H19 / IGF2 : TSS‐DMR ) in 11p15.5
| العنوان: | Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 ( |
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| المؤلفون: | Erdmute Kunstmann, Maja Hempel, Eva Klopocki, Thomas Eggermann, Florian Kraft, Irina Hüning, Katja Kloth |
| المصدر: | Clinical Genetics. 98:418-419 |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, Genetics, 03 medical and health sciences, 030104 developmental biology, Gene duplication, 030105 genetics & heredity, Allele, Biology, Imprinting (psychology), Phenotype, Genetics (clinical) |
| الوصف: | The clinical impact of duplications affecting the 11p15.5 region is difficult to predict, and depends on the parent-of-origin of the affected allele as well as on the type (deletion, duplication), the extent and genomic content of the variant. Three unrelated families with inheritance of duplications affecting the IC1 region in 11p15.5 through two generations but different phenotypes (Beckwith-Wiedemann and Silver-Russell syndromes, normal phenotype) are reported. The inconsistent phenotypic patterns of carriers of the same variant strongly indicate the impact of cis- and/or trans-acting modifiers on the clinical outcome of IC1 duplication carriers. |
| تدمد: | 1399-0004 0009-9163 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::7502da0e4575cb8e9bcd14fc7b6e9590Test https://doi.org/10.1111/cge.13820Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi...........7502da0e4575cb8e9bcd14fc7b6e9590 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13990004 00099163 |
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