Bardet-biedl syndrome: An atypical phenotype in brothers with a proven BBS1 mutation

Ophthalmic Genetics

Volumn 29, Issue 3, 2008, Pages 128-132

  Cannon, Paul S ^a   Clayton Smith, Jill ^b   Beales, Philip L ^c   Lloyd, I Christopher ^a  

^a MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

^b St Mary's University Hospital   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Bardet Biedl syndrome; BBS1 gene; Post axial polydactyly; Retinal dystrophy

Indexed keywords

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; BARDET BIEDL SYNDROME; BBS1 GENE; CASE REPORT; CHROMOSOME 11Q; CLINICAL FEATURE; DISEASE ASSOCIATION; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; LEARNING DISORDER; MALE; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA PIGMENT DEGENERATION;

ADOLESCENT; ADULT; BARDET-BIEDL SYNDROME; CHROMOSOMES, HUMAN, PAIR 11; DNA MUTATIONAL ANALYSIS; FINGERS; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE; POLYDACTYLY; POLYMERASE CHAIN REACTION; PROTEINS; RETINAL DEGENERATION;

EID: 51049118124     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810802216464     Document Type: Article

References (11)

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