000			01952 a2200577 4500
005			20250517090130.0
264		0	_c20170406
008			201704s 0 0 eng d
022			_a1435-232X
024	7		_a10.1038/jhg.2016.30 _2doi
040			_aNLM _beng _cNLM
100	1		_aJamsheer, Aleksander
245	0	0	_aExome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency. _h[electronic resource]
260			_bJournal of human genetics _cJul 2016
300			_a577-83 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article
650	0	4	_aAdult
650	0	4	_aCraniofacial Abnormalities _xdiagnosis
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDwarfism _xdiagnosis
650	0	4	_aDwarfism, Pituitary _xdiagnosis
650	0	4	_aExome
650	0	4	_aFemale
650	0	4	_aHaplotypes
650	0	4	_aHeterozygote
650	0	4	_aHigh-Throughput Nucleotide Sequencing
650	0	4	_aHumans
650	0	4	_aJoint Instability _xdiagnosis
650	0	4	_aMale
650	0	4	_aMicrosatellite Repeats
650	0	4	_aMutation
650	0	4	_aOssification, Heterotopic _xdiagnosis
650	0	4	_aPentosyltransferases _xgenetics
650	0	4	_aPhenotype
650	0	4	_aPoland
650	0	4	_aPolydactyly _xdiagnosis
650	0	4	_aPregnancy
650	0	4	_aPrenatal Diagnosis
650	0	4	_aSkeleton _xdiagnostic imaging
650	0	4	_aUDP Xylose-Protein Xylosyltransferase
700	1		_aOlech, Ewelina M
700	1		_aKozłowski, Kazimierz
700	1		_aNiedziela, Marek
700	1		_aSowińska-Seidler, Anna
700	1		_aObara-Moszyńska, Monika
700	1		_aLatos-Bieleńska, Anna
700	1		_aKarczewski, Marek
700	1		_aZemojtel, Tomasz
773	0		_tJournal of human genetics _gvol. 61 _gno. 7 _gp. 577-83
856	4	0	_uhttps://doi.org/10.1038/jhg.2016.30 _zAvailable from publisher's website
999			_c25878848 _d25878848