000			02116 a2200649 4500
005			20250516232443.0
264		0	_c20150612
008			201506s 0 0 eng d
022			_a1878-0849
024	7		_a10.1016/j.ejmg.2014.08.007 _2doi
040			_aNLM _beng _cNLM
100	1		_aAnsari, Morad
245	0	0	_aA syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. _h[electronic resource]
260			_bEuropean journal of medical genetics _cOct 2014
300			_a587-95 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aChild
650	0	4	_aChromosomes, Human, Pair 5
650	0	4	_aCleft Palate _xgenetics
650	0	4	_aClubfoot _xcomplications
650	0	4	_aContracture _xcongenital
650	0	4	_aEar, External _xabnormalities
650	0	4	_aFemale
650	0	4	_aFibrillin-2
650	0	4	_aFibrillins
650	0	4	_aFingers
650	0	4	_aGene Deletion
650	0	4	_aHaploinsufficiency _xgenetics
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMicrofilament Proteins _xgenetics
650	0	4	_aMutation, Missense
650	0	4	_aNucleocytoplasmic Transport Proteins _xgenetics
650	0	4	_aPhenotype
650	0	4	_aPhosphoproteins _xgenetics
650	0	4	_aPierre Robin Syndrome _xgenetics
650	0	4	_aSequence Deletion _xgenetics
650	0	4	_aSyndrome
650	0	4	_aYoung Adult
700	1		_aRainger, Jacqueline K
700	1		_aMurray, Jennie E
700	1		_aHanson, Isabel
700	1		_aFirth, Helen V
700	1		_aMehendale, Felicity
700	1		_aAmiel, Jeanne
700	1		_aGordon, Christopher T
700	1		_aPercesepe, Antonio
700	1		_aMazzanti, Laura
700	1		_aFryer, Alan
700	1		_aFerrari, Paola
700	1		_aDevriendt, Koenraad
700	1		_aTemple, I Karen
700	1		_aFitzPatrick, David R
773	0		_tEuropean journal of medical genetics _gvol. 57 _gno. 10 _gp. 587-95
856	4	0	_uhttps://doi.org/10.1016/j.ejmg.2014.08.007 _zAvailable from publisher's website
999			_c24165570 _d24165570