000			02308 a2200673 4500
005			20250517045944.0
264		0	_c20160926
008			201609s 0 0 eng d
022			_a1365-2133
024	7		_a10.1111/bjd.14073 _2doi
040			_aNLM _beng _cNLM
100	1		_aBursztejn, A-C
245	0	0	_aUnusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes. _h[electronic resource]
260			_bThe British journal of dermatology _cDec 2015
300			_a1505-13 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAdult
650	0	4	_aAortic Diseases _xgenetics
650	0	4	_aAutoimmune Diseases of the Nervous System _xgenetics
650	0	4	_aChilblains _xgenetics
650	0	4	_aChild, Preschool
650	0	4	_aDEAD-box RNA Helicases _xgenetics
650	0	4	_aDental Enamel Hypoplasia _xgenetics
650	0	4	_aHeterozygote
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aInterferon-Induced Helicase, IFIH1
650	0	4	_aLupus Erythematosus, Cutaneous _xgenetics
650	0	4	_aMale
650	0	4	_aMetacarpus _xabnormalities
650	0	4	_aMuscular Diseases _xgenetics
650	0	4	_aMutation _xgenetics
650	0	4	_aNervous System Diseases _xgenetics
650	0	4	_aNervous System Malformations _xgenetics
650	0	4	_aOdontodysplasia _xgenetics
650	0	4	_aOsteoporosis _xgenetics
650	0	4	_aPhenotype
650	0	4	_aSkin Diseases, Genetic _xgenetics
650	0	4	_aTooth Loss _xgenetics
650	0	4	_aVascular Calcification _xgenetics
700	1		_aBriggs, T A
700	1		_adel Toro Duany, Y
700	1		_aAnderson, B H
700	1		_aO'Sullivan, J
700	1		_aWilliams, S G
700	1		_aBodemer, C
700	1		_aFraitag, S
700	1		_aGebhard, F
700	1		_aLeheup, B
700	1		_aLemelle, I
700	1		_aOojageer, A
700	1		_aRaffo, E
700	1		_aSchmitt, E
700	1		_aRice, G I
700	1		_aHur, S
700	1		_aCrow, Y J
773	0		_tThe British journal of dermatology _gvol. 173 _gno. 6 _gp. 1505-13
856	4	0	_uhttps://doi.org/10.1111/bjd.14073 _zAvailable from publisher's website
999			_c25180469 _d25180469