000			02113 a2200649 4500
005			20250516182706.0
264		0	_c20140212
008			201402s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2013.10.023 _2doi
040			_aNLM _beng _cNLM
100	1		_aGordon, Christopher T
245	0	0	_aMutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. _h[electronic resource]
260			_bAmerican journal of human genetics _cDec 2013
300			_a1118-25 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Sequence
650	0	4	_aAmino Acid Substitution
650	0	4	_aDNA Mutational Analysis
650	0	4	_aEar _xabnormalities
650	0	4	_aEar Diseases _xdiagnosis
650	0	4	_aEndothelin-1 _xgenetics
650	0	4	_aFemale
650	0	4	_aGenes, Dominant
650	0	4	_aGenes, Recessive
650	0	4	_aGenotype
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aSequence Alignment
650	0	4	_aSignal Transduction
700	1		_aPetit, Florence
700	1		_aKroisel, Peter M
700	1		_aJakobsen, Linda
700	1		_aZechi-Ceide, Roseli Maria
700	1		_aOufadem, Myriam
700	1		_aBole-Feysot, Christine
700	1		_aPruvost, Solenn
700	1		_aMasson, Cécile
700	1		_aTores, Frédéric
700	1		_aHieu, Thierry
700	1		_aNitschké, Patrick
700	1		_aLindholm, Pernille
700	1		_aPellerin, Philippe
700	1		_aGuion-Almeida, Maria Leine
700	1		_aKokitsu-Nakata, Nancy Mizue
700	1		_aVendramini-Pittoli, Siulan
700	1		_aMunnich, Arnold
700	1		_aLyonnet, Stanislas
700	1		_aHolder-Espinasse, Muriel
700	1		_aAmiel, Jeanne
773	0		_tAmerican journal of human genetics _gvol. 93 _gno. 6 _gp. 1118-25
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2013.10.023 _zAvailable from publisher's website
999			_c23300639 _d23300639