Novel mutation in XPNPEP3 in a patient with heart failure without nephronophthisis-like nephropathy (NPHPL1): case report and literature review
Abstract Background X-prolyl aminopeptidase 3 (XPNPEP3) mutations are known to cause nephronophthisis-like nephropathy-1 (NPHPL1), a rare autosomal-recessive kidney disease characterized by progressive kidney failure and cystic kidney disease in childhood. The full phenotypic spectrum associated wit...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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BMC,
2024-10-01T00:00:00Z.
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