000			02037 a2200613 4500
005			20250515160026.0
264		0	_c20090323
008			200903s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2009.01.009 _2doi
040			_aNLM _beng _cNLM
100	1		_aParry, David A
245	0	0	_aMutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. _h[electronic resource]
260			_bAmerican journal of human genetics _cFeb 2009
300			_a266-73 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAmelogenesis Imperfecta _xgenetics
650	0	4	_aArabs _xgenetics
650	0	4	_aCation Transport Proteins _xgenetics
650	0	4	_aConsanguinity
650	0	4	_aFemale
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMiddle East
650	0	4	_aMutation
650	0	4	_aPhenotype
650	0	4	_aPolymorphism, Single Nucleotide
650	0	4	_aRetinal Cone Photoreceptor Cells _xpathology
650	0	4	_aRetinal Rod Photoreceptor Cells _xpathology
650	0	4	_aRetinitis Pigmentosa _xgenetics
650	0	4	_aSyndrome
650	0	4	_aTooth Abnormalities _xgenetics
700	1		_aMighell, Alan J
700	1		_aEl-Sayed, Walid
700	1		_aShore, Roger C
700	1		_aJalili, Ismail K
700	1		_aDollfus, Hélène
700	1		_aBloch-Zupan, Agnes
700	1		_aCarlos, Roman
700	1		_aCarr, Ian M
700	1		_aDowney, Louise M
700	1		_aBlain, Katharine M
700	1		_aMansfield, David C
700	1		_aShahrabi, Mehdi
700	1		_aHeidari, Mansour
700	1		_aAref, Parissa
700	1		_aAbbasi, Mohsen
700	1		_aMichaelides, Michel
700	1		_aMoore, Anthony T
700	1		_aKirkham, Jennifer
700	1		_aInglehearn, Chris F
773	0		_tAmerican journal of human genetics _gvol. 84 _gno. 2 _gp. 266-73
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2009.01.009 _zAvailable from publisher's website
999			_c18644725 _d18644725