000			02181 a2200637 4500
005			20250516022149.0
264		0	_c20110913
008			201109s 0 0 eng d
022			_a1476-5438
024	7		_a10.1038/ejhg.2010.256 _2doi
040			_aNLM _beng _cNLM
100	1		_aBen Yaou, Rabah
245	0	0	_aType B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. _h[electronic resource]
260			_bEuropean journal of human genetics : EJHG _cJun 2011
300			_a647-54 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	_aAcro-Osteolysis _xcomplications
650	0	4	_aAdult
650	0	4	_aAmino Acid Sequence
650	0	4	_aCell Culture Techniques
650	0	4	_aFemale
650	0	4	_aFibroblasts
650	0	4	_aHeterozygote
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aLamin Type A _xgenetics
650	0	4	_aLipodystrophy _xcomplications
650	0	4	_aMandible _xabnormalities
650	0	4	_aMembrane Proteins _xgenetics
650	0	4	_aMetalloendopeptidases _xgenetics
650	0	4	_aMolecular Sequence Data
650	0	4	_aMuscular Dystrophies _xcomplications
650	0	4	_aMutation
650	0	4	_aMutation, Missense
650	0	4	_aMyopathies, Structural, Congenital _xcomplications
650	0	4	_aNuclear Proteins _xgenetics
650	0	4	_aPhenotype
650	0	4	_aProgeria _xcomplications
650	0	4	_aProtein Precursors _xgenetics
700	1		_aNavarro, Claire
700	1		_aQuijano-Roy, Susana
700	1		_aBertrand, Anne T
700	1		_aMassart, Catherine
700	1		_aDe Sandre-Giovannoli, Annachiara
700	1		_aCadiñanos, Juan
700	1		_aMamchaoui, Kamel
700	1		_aButler-Browne, Gillian
700	1		_aEstournet, Brigitte
700	1		_aRichard, Pascale
700	1		_aBarois, Annie
700	1		_aLévy, Nicolas
700	1		_aBonne, Gisèle
773	0		_tEuropean journal of human genetics : EJHG _gvol. 19 _gno. 6 _gp. 647-54
856	4	0	_uhttps://doi.org/10.1038/ejhg.2010.256 _zAvailable from publisher's website
999			_c20547608 _d20547608