000			02070 a2200625 4500
005			20250515121554.0
264		0	_c20080627
008			200806s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2008.04.014 _2doi
040			_aNLM _beng _cNLM
100	1		_aCornier, Alberto S
245	0	0	_aMutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. _h[electronic resource]
260			_bAmerican journal of human genetics _cJun 2008
300			_a1334-41 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAbnormalities, Multiple _xgenetics
650	0	4	_aAmino Acid Sequence
650	0	4	_aBase Sequence
650	0	4	_aBasic Helix-Loop-Helix Transcription Factors _xgenetics
650	0	4	_aCodon, Nonsense
650	0	4	_aDNA _xgenetics
650	0	4	_aDNA Primers _xgenetics
650	0	4	_aDysostoses _xgenetics
650	0	4	_aFemale
650	0	4	_aFounder Effect
650	0	4	_aGenes, Recessive
650	0	4	_aHispanic or Latino _xgenetics
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation
650	0	4	_aMutation, Missense
650	0	4	_aPolymorphism, Single Nucleotide
650	0	4	_aPuerto Rico _xethnology
650	0	4	_aRibs _xabnormalities
650	0	4	_aSequence Homology, Amino Acid
650	0	4	_aSyndrome
650	0	4	_aThoracic Vertebrae _xabnormalities
700	1		_aStaehling-Hampton, Karen
700	1		_aDelventhal, Kym M
700	1		_aSaga, Yumiko
700	1		_aCaubet, Jean-Francois
700	1		_aSasaki, Nobuo
700	1		_aEllard, Sian
700	1		_aYoung, Elizabeth
700	1		_aRamirez, Norman
700	1		_aCarlo, Simon E
700	1		_aTorres, Jose
700	1		_aEmans, John B
700	1		_aTurnpenny, Peter D
700	1		_aPourquié, Olivier
773	0		_tAmerican journal of human genetics _gvol. 82 _gno. 6 _gp. 1334-41
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2008.04.014 _zAvailable from publisher's website
999			_c17979770 _d17979770