Clinical diagnoses that overlap with choroideremia

Purpose: To understand which clinical presentations suggest a diagnosis of choroideremia (CHM). Methods: Retrospective chart review. Included were patients for whom a clinical diagnosis of CHM was suggested, but either protein analysis or direct sequencing of the CHM gene could not confirm the diagn...

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Veröffentlicht in:	Canadian journal of ophthalmology 2003-08, Vol.38 (5), p.364-372
Hauptverfasser:	Lee, Thomas K.M., McTaggart, Kerry E., Sieving, Paul A., Heckenlively, John R., Levin, Alex V., Greenberg, Jacquie, Weleber, Richard G., Tong, Patrick Y., Anhalt, Edward F., Powell, Berkley R., MacDonald, Ian M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing Adult Aged Alkyl and Aryl Transferases Biological and medical sciences Child Child, Preschool choroideremia Choroideremia - diagnosis Choroideremia - metabolism Choroideremia - pathology cone-rod dystrophy congenital stationary night blindness Diagnosis, Differential Diagnostic Errors DNA - metabolism Eye Proteins - genetics Eye Proteins - metabolism Female Fundus Oculi Humans Male Medical Records Medical sciences Middle Aged Mutation Ophthalmology rab GTP-Binding Proteins - genetics retinitis pigmentosa Retinopathies Retrospective Studies Tumors and pseudotumors of the eye, orbit, eyelid, lacrimal apparatus Usher syndrome
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