Ebner, Kathrin <br/><br/>
Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.  [electronic resource] 

 -  Pediatric nephrology (Berlin, Germany)  Jul 2017 
 - 1269-1273 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1432-198X 
<br/><br/><label>Standard No.: </label>10.1007/s00467-017-3648-x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Female<br/>Genetic Testing--methods<br/>Genotype<br/>Hepatomegaly--diagnostic imaging<br/>Humans<br/>Hyperplasia<br/>Infant, Low Birth Weight<br/>Infant, Newborn<br/>Infant, Premature<br/>Introns--genetics<br/>Kidney--diagnostic imaging<br/>Kidney Failure, Chronic--etiology<br/>Magnetic Resonance Imaging<br/>Mutation<br/>Phenotype<br/>Point Mutation<br/>Polycystic Kidney, Autosomal Recessive--complications<br/>Receptors, Cell Surface--genetics