TY  - GEN
AU  - Ebner,Kathrin
AU  - Dafinger,Claudia
AU  - Ortiz-Bruechle,Nadina
AU  - Koerber,Friederike
AU  - Schermer,Bernhard
AU  - Benzing,Thomas
AU  - Dötsch,Jörg
AU  - Zerres,Klaus
AU  - Weber,Lutz Thorsten
AU  - Beck,Bodo B
AU  - Liebau,Max Christoph
TI  - Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations
SN  - 1432-198X
PY  - 2018///0319
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Exons
KW  - genetics
KW  - Female
KW  - Genetic Testing
KW  - methods
KW  - Genotype
KW  - Hepatomegaly
KW  - diagnostic imaging
KW  - Humans
KW  - Hyperplasia
KW  - Infant, Low Birth Weight
KW  - Infant, Newborn
KW  - Infant, Premature
KW  - Introns
KW  - Kidney
KW  - Kidney Failure, Chronic
KW  - etiology
KW  - Magnetic Resonance Imaging
KW  - Mutation
KW  - Phenotype
KW  - Point Mutation
KW  - Polycystic Kidney, Autosomal Recessive
KW  - complications
KW  - Receptors, Cell Surface
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s00467-017-3648-x
ER  -