Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity

Genetics in Medicine

Volumn 12, Issue 10, 2010, Pages 623-627

  Sapp, Julie C ^a   Nishimura, Darryl ^b   Johnston, Jennifer J ^a   Stone, Edwin M ^c   Héon, Elise ^d   Sheffield, Val C ^b   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b Division of Medical Genetics   (Canada)

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

^d HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

carrier frequency; genetic heterogeneity; obesity; recurrence risks; rod cone dystrophy

Indexed keywords

ARTICLE; BARDET BIEDL SYNDROME; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC RISK; HUMAN; MAJOR CLINICAL STUDY; MALE; PEDIGREE; RECURRENCE RISK;

ABNORMALITIES, MULTIPLE; ALLELES; BARDET-BIEDL SYNDROME; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETIC LOCI; GENETIC TESTING; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; MODELS, GENETIC; MUTATION; OBESITY; PEDIGREE; PRENATAL DIAGNOSIS; RETINITIS PIGMENTOSA; RISK ASSESSMENT;

EID: 77958599024     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181f07572     Document Type: Article

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