000			02207 a2200673 4500
005			20250516161944.0
264		0	_c20140102
008			201401s 0 0 eng d
022			_a1750-1172
024	7		_a10.1186/1750-1172-8-110 _2doi
040			_aNLM _beng _cNLM
100	1		_aVoigt, Claudia
245	0	0	_aOto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. _h[electronic resource]
260			_bOrphanet journal of rare diseases _cJul 2013
300			_a110 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aEsophageal Atresia _xgenetics
650	0	4	_aFemale
650	0	4	_aGenetic Association Studies
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xgenetics
650	0	4	_aMale
650	0	4	_aMandibulofacial Dysostosis _xgenetics
650	0	4	_aMutation
650	0	4	_aPeptide Elongation Factors _xgenetics
650	0	4	_aPhenotype
650	0	4	_aRibonucleoprotein, U5 Small Nuclear
650	0	4	_aSequence Analysis, DNA
650	0	4	_aYoung Adult
700	1		_aMégarbané, André
700	1		_aNeveling, Kornelia
700	1		_aCzeschik, Johanna Christina
700	1		_aAlbrecht, Beate
700	1		_aCallewaert, Bert
700	1		_avon Deimling, Florian
700	1		_aHehr, Andreas
700	1		_aFalkenberg Smeland, Marie
700	1		_aKönig, Rainer
700	1		_aKuechler, Alma
700	1		_aMarcelis, Carlo
700	1		_aPuiu, Maria
700	1		_aReardon, Willie
700	1		_aRiise Stensland, Hilde Monica Frostad
700	1		_aSchweiger, Bernd
700	1		_aSteehouwer, Marloes
700	1		_aTeller, Christopher
700	1		_aMartin, Marcel
700	1		_aRahmann, Sven
700	1		_aHehr, Ute
700	1		_aBrunner, Han G
700	1		_aLüdecke, Hermann-Josef
700	1		_aWieczorek, Dagmar
773	0		_tOrphanet journal of rare diseases _gvol. 8 _gp. 110
856	4	0	_uhttps://doi.org/10.1186/1750-1172-8-110 _zAvailable from publisher's website
999			_c22941750 _d22941750