000			01920 a2200517 4500
005			20250514200055.0
264		0	_c20050318
008			200503s 0 0 eng d
022			_a1552-4825
024	7		_a10.1002/ajmg.a.30148 _2doi
040			_aNLM _beng _cNLM
100	1		_aWallace, Stephanie E
245	0	0	_aMarked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. _h[electronic resource]
260			_bAmerican journal of medical genetics. Part A _cSep 2004
300			_a235-47 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAdrenal Cortex Hormones _xtherapeutic use
650	0	4	_aAdult
650	0	4	_aBase Sequence
650	0	4	_aBones of Upper Extremity _xdiagnostic imaging
650	0	4	_aCamurati-Engelmann Syndrome _xdrug therapy
650	0	4	_aChromosomes, Human, Pair 19 _xgenetics
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDNA Primers
650	0	4	_aFemale
650	0	4	_aGene Components
650	0	4	_aGenetic Linkage
650	0	4	_aHumans
650	0	4	_aInfant, Newborn
650	0	4	_aLeg Bones _xdiagnostic imaging
650	0	4	_aMale
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aRadiography
650	0	4	_aSequence Analysis, DNA
650	0	4	_aSkull _xdiagnostic imaging
650	0	4	_aTandem Repeat Sequences _xgenetics
650	0	4	_aTransforming Growth Factor beta _xgenetics
700	1		_aLachman, Ralph S
700	1		_aMekikian, Pertchoui B
700	1		_aBui, Kathy K
700	1		_aWilcox, William R
773	0		_tAmerican journal of medical genetics. Part A _gvol. 129A _gno. 3 _gp. 235-47
856	4	0	_uhttps://doi.org/10.1002/ajmg.a.30148 _zAvailable from publisher's website
999			_c15024491 _d15024491