000			02063 a2200577 4500
005			20250518050921.0
264		0	_c20200803
008			202008s 0 0 eng d
022			_a1552-4833
024	7		_a10.1002/ajmg.a.61294 _2doi
040			_aNLM _beng _cNLM
100	1		_aŠkorić-Milosavljević, Doris
245	0	0	_aGATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum. _h[electronic resource]
260			_bAmerican journal of medical genetics. Part A _c09 2019
300			_a1836-1845 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdult
650	0	4	_aChild
650	0	4	_aGATA6 Transcription Factor _xgenetics
650	0	4	_aGallbladder _xphysiopathology
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aGenotype
650	0	4	_aHeart _xdiagnostic imaging
650	0	4	_aHeart Defects, Congenital _xdiagnostic imaging
650	0	4	_aHernias, Diaphragmatic, Congenital _xdiagnostic imaging
650	0	4	_aHeterozygote
650	0	4	_aHumans
650	0	4	_aLoss of Function Mutation _xgenetics
650	0	4	_aMale
650	0	4	_aMutation
650	0	4	_aPancreas _xdiagnostic imaging
650	0	4	_aPhenotype
650	0	4	_aTruncus Arteriosus, Persistent _xdiagnostic imaging
650	0	4	_aExome Sequencing
700	1		_aTjong, Fleur V Y
700	1		_aBarc, Julien
700	1		_aBackx, Ad P C M
700	1		_aClur, Sally-Ann B
700	1		_avan Spaendonck-Zwarts, Karin
700	1		_aOostra, Roelof-Jan
700	1		_aLahrouchi, Najim
700	1		_aBeekman, Leander
700	1		_aBökenkamp, Regina
700	1		_aBarge-Schaapveld, Daniela Q C M
700	1		_aMulder, Barbara J
700	1		_aLodder, Elisabeth M
700	1		_aBezzina, Connie R
700	1		_aPostma, Alex V
773	0		_tAmerican journal of medical genetics. Part A _gvol. 179 _gno. 9 _gp. 1836-1845
856	4	0	_uhttps://doi.org/10.1002/ajmg.a.61294 _zAvailable from publisher's website
999			_c29896776 _d29896776