000			02000 a2200637 4500
005			20250515014611.0
264		0	_c20060530
008			200605s 0 0 eng d
022			_a1552-4825
024	7		_a10.1002/ajmg.a.31114 _2doi
040			_aNLM _beng _cNLM
100	1		_aFaivre, Laurence
245	0	0	_aRecurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. _h[electronic resource]
260			_bAmerican journal of medical genetics. Part A _cMar 2006
300			_a636-9 p. _bdigital
500			_aPublication Type: Case Reports; Letter
650	0	4	_aAbnormalities, Multiple _xgenetics
650	0	4	_aAlleles
650	0	4	_aAnophthalmos _xpathology
650	0	4	_aBase Sequence
650	0	4	_aDNA Mutational Analysis
650	0	4	_aFamily Health
650	0	4	_aFatal Outcome
650	0	4	_aFemale
650	0	4	_aFetal Death
650	0	4	_aGenotype
650	0	4	_aHMGB Proteins _xgenetics
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aMale
650	0	4	_aMosaicism
650	0	4	_aMothers
650	0	4	_aMutation, Missense
650	0	4	_aOptic Nerve _xabnormalities
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aSOXB1 Transcription Factors
650	0	4	_aSex Chromosome Aberrations
650	0	4	_aSyndrome
650	0	4	_aTranscription Factors _xgenetics
700	1		_aWilliamson, Kathleen A
700	1		_aFaber, Valérie
700	1		_aLaurent, Nicole
700	1		_aGrimaldi, Marianne
700	1		_aThauvin-Robinet, Christel
700	1		_aDurand, Christine
700	1		_aMugneret, Francine
700	1		_aGouyon, Jean-Bernard
700	1		_aBron, Alain
700	1		_aHuet, Frédéric
700	1		_aHayward, Caroline
700	1		_aHeyningen, Veronica van
700	1		_aFitzpatrick, David R
773	0		_tAmerican journal of medical genetics. Part A _gvol. 140 _gno. 6 _gp. 636-9
856	4	0	_uhttps://doi.org/10.1002/ajmg.a.31114 _zAvailable from publisher's website
999			_c16083375 _d16083375