000			02023 a2200637 4500
005			20250518025603.0
264		0	_c20200603
008			202006s 0 0 eng d
022			_a1468-6244
024	7		_a10.1136/jmedgenet-2018-105836 _2doi
040			_aNLM _beng _cNLM
100	1		_aJohnston, Jennifer J
245	0	0	_aNone _h[electronic resource]
260			_bJournal of medical genetics _c07 2019
300			_a444-452 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
650	0	4	_a3' Untranslated Regions
650	0	4	_aAlleles
650	0	4	_aAnophthalmos
650	0	4	_aFemale
650	0	4	_aGenes, X-Linked
650	0	4	_aGenetic Association Studies
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aGenetic Variation
650	0	4	_aGenotype
650	0	4	_aHumans
650	0	4	_aLod Score
650	0	4	_aMale
650	0	4	_aMicrophthalmos
650	0	4	_aN-Terminal Acetyltransferase A _xgenetics
650	0	4	_aN-Terminal Acetyltransferase E _xgenetics
650	0	4	_aPedigree
650	0	4	_aPoly A
650	0	4	_aSequence Analysis, DNA
650	0	4	_aX Chromosome Inactivation
700	1		_aWilliamson, Kathleen A
700	1		_aChou, Christopher M
700	1		_aSapp, Julie C
700	1		_aAnsari, Morad
700	1		_aChapman, Heather M
700	1		_aCooper, David N
700	1		_aDabir, Tabib
700	1		_aDudley, Jeffrey N
700	1		_aHolt, Richard J
700	1		_aRagge, Nicola K
700	1		_aSchäffer, Alejandro A
700	1		_aSen, Shurjo K
700	1		_aSlavotinek, Anne M
700	1		_aFitzPatrick, David R
700	1		_aGlaser, Thomas M
700	1		_aStewart, Fiona
700	1		_aBlack, Graeme Cm
700	1		_aBiesecker, Leslie G
773	0		_tJournal of medical genetics _gvol. 56 _gno. 7 _gp. 444-452
856	4	0	_uhttps://doi.org/10.1136/jmedgenet-2018-105836 _zAvailable from publisher's website
999			_c29449083 _d29449083