000			01963 a2200601 4500
005			20250515231348.0
264		0	_c20100728
008			201007s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2010.06.008 _2doi
040			_aNLM _beng _cNLM
100	1		_aSun, Yu
245	0	0	_aTerminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. _h[electronic resource]
260			_bAmerican journal of human genetics _cJul 2010
300			_a146-53 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdult
650	0	4	_aBone Diseases, Developmental _xcomplications
650	0	4	_aBone Neoplasms _xcomplications
650	0	4	_aChild, Preschool
650	0	4	_aContractile Proteins _xgenetics
650	0	4	_aFemale
650	0	4	_aFibroma _xcomplications
650	0	4	_aFilamins
650	0	4	_aGenetic Association Studies
650	0	4	_aGenetic Diseases, X-Linked _xgenetics
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aInfant, Newborn
650	0	4	_aMale
650	0	4	_aMicrofilament Proteins _xgenetics
650	0	4	_aMutation
650	0	4	_aNeoplasm Recurrence, Local
650	0	4	_aPedigree
650	0	4	_aPigmentation Disorders _xcomplications
650	0	4	_aSkin Pigmentation
700	1		_aAlmomani, Rowida
700	1		_aAten, Emmelien
700	1		_aCelli, Jacopo
700	1		_avan der Heijden, Jaap
700	1		_aVenselaar, Hanka
700	1		_aRobertson, Stephen P
700	1		_aBaroncini, Anna
700	1		_aFranco, Brunella
700	1		_aBasel-Vanagaite, Lina
700	1		_aHorii, Emiko
700	1		_aDrut, Ricardo
700	1		_aAriyurek, Yavuz
700	1		_aden Dunnen, Johan T
700	1		_aBreuning, Martijn H
773	0		_tAmerican journal of human genetics _gvol. 87 _gno. 1 _gp. 146-53
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2010.06.008 _zAvailable from publisher's website
999			_c19944954 _d19944954