The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy

British Journal of Ophthalmology

Volumn 100, Issue 6, 2016, Pages 829-833

  Bifari, Inam N ^a   Elkhamary, Sahar M ^a   Bolz, Hanno J ^b,c   Khan, Arif O ^a  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b Center for Human Genetics   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONSANGUINITY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ELECTRORETINOGRAPHY; FEMALE; FINGER MALFORMATION; GENE MUTATION; HAND MOVEMENT; HOMOZYGOTE; HUMAN; HYPERMETROPIA; IFT140 GENE; INFANT; KIDNEY DISEASE; MALE; MUTATOR GENE; NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; RETINA MALFORMATION; VISUAL ACUITY; CILIOPATHIES; COMPLICATION; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; GENETICS; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD; RECESSIVE GENE; RETINA; RETINAL DYSTROPHIES; RETROSPECTIVE STUDY; YOUNG ADULT;

CARRIER PROTEIN; DNA; IFT140 PROTEIN, HUMAN;

ADOLESCENT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CILIOPATHIES; DNA; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; PHENOTYPE; RETINA; RETINAL DYSTROPHIES; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84941703069     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2015-307555     Document Type: Article

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