Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene

European Journal of Human Genetics

Volumn 21, Issue 11, 2013, Pages 1240-1248

  Pyo Park, Sung ^a,b   Hwan Hong, In ^b   Tsang, Stephen H ^a,c   Chang, Stanley ^a  

^a Edward S Harkness Eye Institute   (United States)

^b Hallym University Medical Center   (South Korea)

^c NewYork Presbyterian Hospital   (United States)

Author keywords

adaptive optics scanning laser ophthalmoscopy; photoreceptor layer; X linked retinitis pigmentosa carrier

Indexed keywords

ADULT; ARTICLE; CELL SURVIVAL; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; HETEROZYGOTE; HUMAN; IN VIVO STUDY; MACULAR THICKNESS; MALE; MOSAICISM; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA DISEASE; RETINITIS PIGMENTOSA; RP2 GENE; RPGR GENE; SCANNING LASER OPHTHALMOSCOPY; VISUAL ACUITY; X LINKED RETINITIS PIGMENTOSA;

ADULT; CASE-CONTROL STUDIES; CILIA; ELECTRORETINOGRAPHY; FEMALE; GENES, X-LINKED; HETEROZYGOTE; HUMANS; MIDDLE AGED; MOLECULAR IMAGING; MOSAICISM; RETINAL CONE PHOTORECEPTOR CELLS; RETINITIS PIGMENTOSA; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84885940583     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.21     Document Type: Article

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