000			02037 a2200577 4500
005			20250515194530.0
264		0	_c20100416
008			201004s 0 0 eng d
022			_a1523-1747
024	7		_a10.1038/jid.2009.357 _2doi
040			_aNLM _beng _cNLM
100	1		_aMahoney, My G
245	0	0	_aCompound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. _h[electronic resource]
260			_bThe Journal of investigative dermatology _cApr 2010
300			_a968-78 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	_aAbnormalities, Multiple _xgenetics
650	0	4	_aAdolescent
650	0	4	_aDental Enamel _xabnormalities
650	0	4	_aDesmoplakins _xchemistry
650	0	4	_aDesmosomes _xpathology
650	0	4	_aFamily Health
650	0	4	_aFatal Outcome
650	0	4	_aFemale
650	0	4	_aHair _xabnormalities
650	0	4	_aHeart Defects, Congenital _xgenetics
650	0	4	_aHeterozygote
650	0	4	_aHumans
650	0	4	_aKeratoderma, Palmoplantar, Epidermolytic _xgenetics
650	0	4	_aMouth Mucosa _xpathology
650	0	4	_aMutation, Missense
650	0	4	_aNail Diseases _xgenetics
650	0	4	_aPhenotype
650	0	4	_aProtein Structure, Tertiary
650	0	4	_aSkin Abnormalities _xgenetics
650	0	4	_aTooth Abnormalities _xgenetics
700	1		_aSadowski, Sara
700	1		_aBrennan, Donna
700	1		_aPikander, Pekka
700	1		_aSaukko, Pekka
700	1		_aWahl, James
700	1		_aAho, Heikki
700	1		_aHeikinheimo, Kristiina
700	1		_aBruckner-Tuderman, Leena
700	1		_aFertala, Andrzej
700	1		_aPeltonen, Juha
700	1		_aUitto, Jouni
700	1		_aPeltonen, Sirkku
773	0		_tThe Journal of investigative dermatology _gvol. 130 _gno. 4 _gp. 968-78
856	4	0	_uhttps://doi.org/10.1038/jid.2009.357 _zAvailable from publisher's website
999			_c19309474 _d19309474