Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation

Ophthalmic Genetics

Volumn 35, Issue 3, 2014, Pages 130-137

  Khan, Arif O ^a,b   Aldahmesh, Mohammed A ^b   Abu Safieh, Leen ^b   Alkuraya, Fowzan S ^b,c  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Cone rod dystrophy; CRB1; Macular cystic degeneration; Rod cone dystrophy

Indexed keywords

CRB1 PROTEIN, HUMAN; EYE PROTEIN; MEMBRANE PROTEIN; NERVE PROTEIN;

ADOLESCENT; ADULT; CHILD; CONSANGUINITY; CYSTS; ELECTRORETINOGRAPHY; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENETICS; HUMAN; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PHYSIOLOGY; RECESSIVE GENE; RETINA; RETINAL DISEASES; RETINITIS PIGMENTOSA;

ADOLESCENT; ADULT; CHILD; CONSANGUINITY; CYSTS; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENES, RECESSIVE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; RETINA; RETINAL DISEASES; RETINITIS PIGMENTOSA; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84905865565     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2013.804097     Document Type: Article

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