Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype

American Journal of Medical Genetics

Volumn 78, Issue 5, 1998, Pages 461-467

  Young, Terry Lynn ^a   Woods, Mike O ^a   Parfrey, Patrick S ^a   Green, Jane S ^a   O'Leary, Elizabeth ^a   Hefferton, Donna ^a   Davidson, William S ^a  

^a MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

Author keywords

Bardet Biedl syndrome type 3; BBS3; Homozygosity mapping; Variable phenotype

Indexed keywords

DNA;

ADULT; ARTICLE; BARDET BIEDL SYNDROME; CALORIC RESTRICTION; CANADA; CHROMOSOME 11Q; CHROMOSOME 15Q; CHROMOSOME 16Q; CHROMOSOME 3P; CLINICAL ARTICLE; EXERCISE; FEMALE; GENETIC LINKAGE; HAPLOTYPE; HUMAN; KIDNEY MALFORMATION; MALE; MENTAL DEFICIENCY; MORBID OBESITY; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; RETINA DYSTROPHY;

ADULT; BLINDNESS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; FEMALE; FINGERS; HAPLOTYPES; HUMANS; INTELLIGENCE TESTS; KIDNEY; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MIDDLE AGED; NEWFOUNDLAND; OBESITY; PEDIGREE; PHENOTYPE; POLYDACTYLY; RETINITIS PIGMENTOSA; SYNDROME; TOES;

EID: 0031855921     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980806)78:5<461::AID-AJMG12>3.0.CO;2-D     Document Type: Article

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