Nevo syndrome with anNSD1 deletion: A variant of Sotos syndrome?
| العنوان: | Nevo syndrome with anNSD1 deletion: A variant of Sotos syndrome? |
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| المؤلفون: | Osamu Shimokawa, Gen Nishimura, Katsuyoshi Kanemoto, Remco Visser, Naomichi Matsumoto, Tomohiro Kamoda, Nobuko Kanemoto |
| المصدر: | American Journal of Medical Genetics Part A. :70-73 |
| بيانات النشر: | Wiley, 2005. |
| سنة النشر: | 2005 |
| مصطلحات موضوعية: | Pathology, medicine.medical_specialty, SET domain, Urinary system, Vesicoureteral reflux, Ductus arteriosus, Genetics, medicine, Humans, Growth Disorders, In Situ Hybridization, Fluorescence, Genetics (clinical), business.industry, Sotos syndrome, Intracellular Signaling Peptides and Proteins, Infant, Nuclear Proteins, Histone-Lysine N-Methyltransferase, Syndrome, medicine.disease, Phenotype, medicine.anatomical_structure, Overgrowth syndrome, Histone Methyltransferases, Chromosomes, Human, Pair 5, Female, Chromosome Deletion, business, Gene Deletion, Nevo syndrome |
| الوصف: | A 17-month-old girl with clinical manifestations of Nevo syndrome and NSD1 (nuclear receptor binding SET domain protein 1) deletion is described. Nevo syndrome is a rare overgrowth syndrome showing considerable phenotypic overlap with Sotos syndrome-another, more frequent overgrowth syndrome caused by NSD1 mutations or deletions. About a half of Japanese Sotos syndrome patients carry a 2.2-Mb common deletion encompassing NSD1 and present with frequent brain, cardiovascular, or urinary tract anomalies. The girl we described had the common deletion and showed patent ductus arteriosus, atrial septal defect, vesicoureteral reflux, and bilateral hydronephrosis. It was thus concluded that the clinical manifestations, including the Nevo syndrome phenotype, were caused by the microdeletion. |
| تدمد: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.30776 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ee47e97d52d669f9948d1066b29c372 https://doi.org/10.1002/ajmg.a.30776 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....0ee47e97d52d669f9948d1066b29c372 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524833 15524825 |
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| DOI: | 10.1002/ajmg.a.30776 |