000			01928 a2200565 4500
005			20250517145347.0
264		0	_c20180319
008			201803s 0 0 eng d
022			_a1432-198X
024	7		_a10.1007/s00467-017-3648-x _2doi
040			_aNLM _beng _cNLM
100	1		_aEbner, Kathrin
245	0	0	_aChallenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations. _h[electronic resource]
260			_bPediatric nephrology (Berlin, Germany) _cJul 2017
300			_a1269-1273 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article
650	0	4	_aChild, Preschool
650	0	4	_aDNA Mutational Analysis
650	0	4	_aExons _xgenetics
650	0	4	_aFemale
650	0	4	_aGenetic Testing _xmethods
650	0	4	_aGenotype
650	0	4	_aHepatomegaly _xdiagnostic imaging
650	0	4	_aHumans
650	0	4	_aHyperplasia
650	0	4	_aInfant, Low Birth Weight
650	0	4	_aInfant, Newborn
650	0	4	_aInfant, Premature
650	0	4	_aIntrons _xgenetics
650	0	4	_aKidney _xdiagnostic imaging
650	0	4	_aKidney Failure, Chronic _xetiology
650	0	4	_aMagnetic Resonance Imaging
650	0	4	_aMutation
650	0	4	_aPhenotype
650	0	4	_aPoint Mutation
650	0	4	_aPolycystic Kidney, Autosomal Recessive _xcomplications
650	0	4	_aReceptors, Cell Surface _xgenetics
700	1		_aDafinger, Claudia
700	1		_aOrtiz-Bruechle, Nadina
700	1		_aKoerber, Friederike
700	1		_aSchermer, Bernhard
700	1		_aBenzing, Thomas
700	1		_aDötsch, Jörg
700	1		_aZerres, Klaus
700	1		_aWeber, Lutz Thorsten
700	1		_aBeck, Bodo B
700	1		_aLiebau, Max Christoph
773	0		_tPediatric nephrology (Berlin, Germany) _gvol. 32 _gno. 7 _gp. 1269-1273
856	4	0	_uhttps://doi.org/10.1007/s00467-017-3648-x _zAvailable from publisher's website
999			_c27036743 _d27036743