A novel familial BBS12 mutation associated with a mild phenotype: Implications for clinical and molecular diagnostic strategies

Molecular Syndromology

Volumn 1, Issue 1, 2010, Pages 27-34

  Pawlik, B ^a,b   Mir, A ^c   Iqbal, H ^c   Li, Y ^a,b   Nurnberg G ^a   Becker, C ^a   Qamar, R ^c   Nurnberg P ^a   Wollnik, Bernd ^a,b  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^c Department of Electrical Computer Engineering   (Pakistan)

Author keywords

Bardet Biedl syndrome; BBS12; Diagnostic criteria; Mild phenotype; Novel mutation

Indexed keywords

GENOMIC DNA;

ADULT; ARTICLE; BARDET BIEDL SYNDROME; CASE REPORT; CHROMOSOME 4Q; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE SEVERITY; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENITAL MALFORMATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; KIDNEY MALFORMATION; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PAKISTAN; PEDIGREE ANALYSIS; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; RETINA DISEASE;

EID: 79952234624     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000276763     Document Type: Article

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