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Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family
Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disease affecting renal development before birth. RTD is manifested by anuria and severe hypotension resulting in oligohydramnios and birth defects known as Potter's syndrome. Homozygous or compound heterozygous mutations in ge...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5162405/ https://www.ncbi.nlm.nih.gov/pubmed/27994858 http://dx.doi.org/10.1093/ckj/sfw057 |