A case report of NPHP1 deletion in Chinese twins with nephronophthisis
Abstract Background Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life. As an inherited disorder with highly genetic heterogeneity and clinic...
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Format: | Book |
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BMC,
2020-04-01T00:00:00Z.
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A1234.567 |
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