000 02071 a2200613 4500
005 20250517032905.0
264 0 _c20150928
008 201509s 0 0 eng d
022 _a1879-1891
024 7 _a10.1016/j.ajo.2015.05.007
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aScheidecker, Sophie
245 0 0 _aPredominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
_h[electronic resource]
260 _bAmerican journal of ophthalmology
_cAug 2015
300 _a364-372.e1 p.
_bdigital
500 _aPublication Type: Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aBardet-Biedl Syndrome
_xcomplications
650 0 4 _aDNA
_xgenetics
650 0 4 _aDNA Mutational Analysis
650 0 4 _aElectroretinography
650 0 4 _aEye Proteins
_xgenetics
650 0 4 _aFemale
650 0 4 _aFluorescein Angiography
650 0 4 _aFundus Oculi
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMutation
650 0 4 _aPhenotype
650 0 4 _aRetinal Cone Photoreceptor Cells
_xphysiology
650 0 4 _aRetinal Degeneration
_xetiology
650 0 4 _aRetrospective Studies
650 0 4 _aTomography, Optical Coherence
650 0 4 _aVisual Acuity
650 0 4 _aVisual Fields
700 1 _aHull, Sarah
700 1 _aPerdomo, Yaumara
700 1 _aStuder, Fouzia
700 1 _aPelletier, Valérie
700 1 _aMuller, Jean
700 1 _aStoetzel, Corinne
700 1 _aSchaefer, Elise
700 1 _aDefoort-Dhellemmes, Sabine
700 1 _aDrumare, Isabelle
700 1 _aHolder, Graham E
700 1 _aHamel, Christian P
700 1 _aWebster, Andrew R
700 1 _aMoore, Anthony T
700 1 _aPuech, Bernard
700 1 _aDollfus, Hélène J
773 0 _tAmerican journal of ophthalmology
_gvol. 160
_gno. 2
_gp. 364-372.e1
856 4 0 _uhttps://doi.org/10.1016/j.ajo.2015.05.007
_zAvailable from publisher's website
999 _c24909310
_d24909310