Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rar...
Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation-a case report
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Cairo: Springer
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English
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Cairo: Springer
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Background Autosomal recessive polycystic kidney disease (ARPKD) is a genetically inherited pediatric disorder. It is caused by a mutation in the PKHD1 gene located on chromosome 6. The predominant phenotype is characterized by early-onset bilateral enlarged kidneys, as well as fibrocystic changes in the kidney and liver. Fetuses or infants usually...
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Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation-a case report
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TN_cdi_proquest_journals_3128477915
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3128477915
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ISSN
1110-8630
E-ISSN
2090-2441
DOI
10.1186/s43042-024-00568-5
