BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Human Mutation

Volumn 32, Issue 6, 2011, Pages 610-619

  Deveault, Catherine ^a   Billingsley, Gail ^a   Duncan, Jacque L ^b   Bin, Jenea ^a   Theal, Rebecca ^a   Vincent, Ajoy ^a   Fieggen, Karen J ^c   Gerth, Christina ^a   Noordeh, Nima ^a   Traboulsi, Elias I ^d   Fishman, Gerald A ^e   Chitayat, David ^a,f   Knueppel, Tanja ^g   Millán, José M ^h   Munier, Francis L ⁱ   Kennedy, Debra ^j   Jacobson, Samuel G ^k   Innes, A Micheil ^l   Mitchell, Grant A ^m   Boycott, Kym ⁿ   Héon, Elise ^a   more..

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CAPE TOWN   (South Africa)

^d LERNER RESEARCH INSTITUTE   (United States)

^e UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^f MOUNT SINAI HOSPITAL   (Canada)

^g UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^h HOSPITAL UNIVERSITARIO LA FE   (Spain)

ⁱ HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

^j ROYAL HOSPITAL FOR WOMEN   (Australia)

^k UNIVERSITY OF PENNSYLVANIA   (United States)

^l UNIVERSITY OF CALGARY   (Canada)

^m UNIVERSITY OF MONTREAL   (Canada)

ⁿ CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

more..

Author keywords

Bardet Biedl syndrome; BBS; Blindness; Mutation; Sequencing

Indexed keywords

ADULT; ALSTROM SYNDROME; ARTICLE; BARDET BIEDL SYNDROME; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; ETHNICITY; FEMALE; GENOTYPE; HOMOZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MCKUSICK KAUFFMAN SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; ALSTROM SYNDROME; BARDET-BIEDL SYNDROME; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FEMALE; GENETIC ASSOCIATION STUDIES; HEART DEFECTS, CONGENITAL; HUMANS; HYDROCOLPOS; INFANT; MALE; MIDDLE AGED; MUTATION; POLYDACTYLY; UTERINE DISEASES;

EID: 79957587544     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21480     Document Type: Article

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