The use of ocular abnormalities to diagnose X-linked Alport syndrome in children

Pediatric Nephrology

Volumn 23, Issue 8, 2008, Pages 1245-1250

  Zhang, Ke Wei ^a   Colville, Deb ^a   Tan, Rachel ^a   Jones, Colin ^b   Alexander, Stephen I ^c   Fletcher, Jeffrey ^c   Savige, Judy ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

Alport syndrome; COL4A5; Collagentype IV; Dotand fleck retinopathy; Lenticonus

Indexed keywords

AMINO ACID; COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA5 CHAIN;

ADOLESCENT; ADULT; AGED; ALPORT SYNDROME; ARTICLE; CHILD; CLINICAL ARTICLE; CONSULTATION; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISEASE SEVERITY; EYE DISEASE; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HEARING LOSS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KIDNEY FAILURE; MALE; MUTATIONAL ANALYSIS; NON INVASIVE MEASUREMENT; ONSET AGE; PRIORITY JOURNAL; RETINOPATHY; SENSITIVITY ANALYSIS; VISUAL SYSTEM EXAMINATION; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; COLLAGEN TYPE IV; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; FAMILY HEALTH; FEMALE; HEARING LOSS; HUMANS; LENS DISEASES; MALE; NEPHRITIS, HEREDITARY; RETINAL DISEASES;

EID: 46949095475     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-008-0759-4     Document Type: Article

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