000			02228 a2200721 4500
005			20250517135117.0
264		0	_c20171019
008			201710s 0 0 eng d
022			_a1552-4833
024	7		_a10.1002/ajmg.a.38069 _2doi
040			_aNLM _beng _cNLM
100	1		_aDunn, P
245	0	0	_aA de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. _h[electronic resource]
260			_bAmerican journal of medical genetics. Part A _cMar 2017
300			_a611-617 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article
650	0	4	_aAdolescent
650	0	4	_aAgenesis of Corpus Callosum _xdiagnosis
650	0	4	_aAnus, Imperforate _xdiagnosis
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aConstipation _xdiagnosis
650	0	4	_aFacies
650	0	4	_aFemale
650	0	4	_aGene Expression
650	0	4	_aGenetic Association Studies
650	0	4	_aGuanylate Kinases _xgenetics
650	0	4	_aHigh-Throughput Nucleotide Sequencing
650	0	4	_aHumans
650	0	4	_aIn Situ Hybridization, Fluorescence
650	0	4	_aMale
650	0	4	_aX-Linked Intellectual Disability _xdiagnosis
650	0	4	_aMuscle Hypotonia _xcongenital
650	0	4	_aMutation
650	0	4	_aNeuropsychological Tests
650	0	4	_aNystagmus, Congenital _xdiagnosis
650	0	4	_aPhenotype
650	0	4	_aPolymorphism, Single Nucleotide
650	0	4	_aRNA Splice Sites
700	1		_aPrigatano, G P
700	1		_aSzelinger, S
700	1		_aRoth, J
700	1		_aSiniard, A L
700	1		_aClaasen, A M
700	1		_aRichholt, R F
700	1		_aDe Both, M
700	1		_aCorneveaux, J J
700	1		_aMoskowitz, A M
700	1		_aBalak, C
700	1		_aPiras, I S
700	1		_aRussell, M
700	1		_aCourtright, A L
700	1		_aBelnap, N
700	1		_aRangasamy, S
700	1		_aRamsey, K
700	1		_aOpitz, J M
700	1		_aCraig, D W
700	1		_aNarayanan, V
700	1		_aHuentelman, M J
700	1		_aSchrauwen, I
773	0		_tAmerican journal of medical genetics. Part A _gvol. 173 _gno. 3 _gp. 611-617
856	4	0	_uhttps://doi.org/10.1002/ajmg.a.38069 _zAvailable from publisher's website
999			_c26833155 _d26833155