Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Counseling and PKHD1[original query] |
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[PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): Genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling]. Nephrologie & therapeutique 2018 Nov 14 (6): 474-477. Hamo Suzy, Bacchetta Justine, Bertholet-Thomas Aurélia, Ranchin Bruno, Cochat Pierre, Michel-Calemard Lauren |
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease. Genetics in medicine : official journal of the American College of Medical Genetics 2020 11 23 (4): 689-697. Durkie Miranda, Chong Jiehan, Valluru Manoj K, Harris Peter C, Ong Albert C |
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- Page last updated:Apr 16, 2024
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