Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome

American Journal of Medical Genetics

Volumn 132 A, Issue 3, 2005, Pages 283-287

  Héon, Elise ^a,b   Westall, Carol ^a,b   Carmi, Rivka ^c   Elbedour, Khalil ^c   Panton, Carole ^a   MacKeen, Leslie ^a   Stone, Edwin M ^d   Sheffield, Val C ^d  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^d UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

Bardet Biedl syndrome; Blindness; Electroretinogram; Retinitis pigmentosa

Indexed keywords

ADOLESCENT; ADULT; BARDET BIEDL SYNDROME; CHILD; CHROMOSOME 11Q; CHROMOSOME 14Q; CHROMOSOME 15Q; CHROMOSOME 16Q; CHROMOSOME 20P; CHROMOSOME 2Q; CHROMOSOME 3P; CHROMOSOME 4Q; CLINICAL EXAMINATION; CONFERENCE PAPER; ELECTRORETINOGRAPHY; FEMALE; GENE LOCUS; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPOGONADISM; KIDNEY MALFORMATION; MALE; MENTAL DEFICIENCY; MYOPIA; OBESITY; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; BARDET-BIEDL SYNDROME; CHILD; CHILD, PRESCHOOL; EYE; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; MALE; MULTIGENE FAMILY; MUTATION; PHENOTYPE; PROTEINS; VARIATION (GENETICS);

EID: 11344254761     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30466     Document Type: Conference Paper

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