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Renal hypoplasia without optic coloboma associated with PAX2 gene deletion

التفاصيل البيبلوغرافية
العنوان: Renal hypoplasia without optic coloboma associated with PAX2 gene deletion
المؤلفون: Leonardo Salviati, Luisa Pinello, Luisa Murer, Graziella Zacchello, Silverio Perrotta, Lina Artifoni, Orsetta Zuffardi, Elisa Benetti
المساهمون: Benetti, E, Artifoni, L, Salviati, L, Pinello, L, Perrotta, Silverio, Zuffardi, O, Zacchello, G, Murer, L.
المصدر: Nephrology Dialysis Transplantation. 22:2076-2078
بيانات النشر: Oxford University Press (OUP), 2007.
سنة النشر: 2007
مصطلحات موضوعية: coloboma gene deletion haploinsufficiency PAX2 gene rare kidney diseases renal coloboma syndrome renal developmental anomalies renal hypodysplasia, medicine.medical_specialty, Pathology, PAX2, Gene Dosage, Kidney, PAX2 gene, Gene dosage, Internal medicine, medicine, Humans, Child, Transplantation, Coloboma, Chromosomes, Human, Pair 10, business.industry, PAX2 Transcription Factor, Optic Nerve, Gene deletion, medicine.disease, Renal hypoplasia, Hypoplasia, Endocrinology, Nephrology, Karyotyping, renal hypodysplasia, Female, Haploinsufficiency, business, Gene Deletion, Kidney disease
تدمد: 1460-2385
0931-0509
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31e2af98ac05e664f480f3070e1c2726
https://doi.org/10.1093/ndt/gfm187
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....31e2af98ac05e664f480f3070e1c2726
قاعدة البيانات: OpenAIRE
الوصف
تدمد:14602385
09310509