Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations. [electronic resource]
Producer: 20180319Description: 1269-1273 p. digitalISSN:- 1432-198X
- Child, Preschool
- DNA Mutational Analysis
- Exons -- genetics
- Female
- Genetic Testing -- methods
- Genotype
- Hepatomegaly -- diagnostic imaging
- Humans
- Hyperplasia
- Infant, Low Birth Weight
- Infant, Newborn
- Infant, Premature
- Introns -- genetics
- Kidney -- diagnostic imaging
- Kidney Failure, Chronic -- etiology
- Magnetic Resonance Imaging
- Mutation
- Phenotype
- Point Mutation
- Polycystic Kidney, Autosomal Recessive -- complications
- Receptors, Cell Surface -- genetics
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Publication Type: Case Reports; Journal Article
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