000			02207 a2200637 4500
005			20250517023602.0
264		0	_c20150529
008			201505s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2015.02.015 _2doi
040			_aNLM _beng _cNLM
100	1		_aWhite, Janson
245	0	0	_aDVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. _h[electronic resource]
260			_bAmerican journal of human genetics _cApr 2015
300			_a612-22 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAdaptor Proteins, Signal Transducing _xgenetics
650	0	4	_aAmino Acid Sequence
650	0	4	_aBase Sequence
650	0	4	_aCraniofacial Abnormalities _xgenetics
650	0	4	_aDNA Primers _xgenetics
650	0	4	_aDishevelled Proteins
650	0	4	_aDwarfism _xgenetics
650	0	4	_aExome _xgenetics
650	0	4	_aExons _xgenetics
650	0	4	_aFrameshift Mutation _xgenetics
650	0	4	_aGene Components
650	0	4	_aHumans
650	0	4	_aLimb Deformities, Congenital _xgenetics
650	0	4	_aMolecular Sequence Data
650	0	4	_aPhosphoproteins _xgenetics
650	0	4	_aSequence Analysis, DNA
650	0	4	_aUrogenital Abnormalities _xgenetics
700	1		_aMazzeu, Juliana F
700	1		_aHoischen, Alexander
700	1		_aJhangiani, Shalini N
700	1		_aGambin, Tomasz
700	1		_aAlcino, Michele Calijorne
700	1		_aPenney, Samantha
700	1		_aSaraiva, Jorge M
700	1		_aHove, Hanne
700	1		_aSkovby, Flemming
700	1		_aKayserili, Hülya
700	1		_aEstrella, Elicia
700	1		_aVulto-van Silfhout, Anneke T
700	1		_aSteehouwer, Marloes
700	1		_aMuzny, Donna M
700	1		_aSutton, V Reid
700	1		_aGibbs, Richard A
700	1		_aLupski, James R
700	1		_aBrunner, Han G
700	1		_avan Bon, Bregje W M
700	1		_aCarvalho, Claudia M B
773	0		_tAmerican journal of human genetics _gvol. 96 _gno. 4 _gp. 612-22
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2015.02.015 _zAvailable from publisher's website
999			_c24749938 _d24749938