تحميل...
Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles
INTRODUCTION: Congenital anomalies of the kidney and urinary tract (CAKUT) represent the primary cause of chronic kidney disease in children. Many genes have been attributed to the genesis of this disorder. Recently, haploinsufficiency of PBX1 caused by microdeletions has been shown to result in bil...
محفوظ في:
| الحاوية / القاعدة: | Front Pediatr |
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| المؤلفون الرئيسيون: | , , , , , , , |
| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Frontiers Media S.A.
2017
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5705563/ https://ncbi.nlm.nih.gov/pubmed/29226118 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2017.00251 |
| الوسوم: |
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