Update on the genetics of bardet-biedl syndrome

Molecular Syndromology

Volumn 5, Issue 2, 2014, Pages 51-56

  M'Hamdi, O ^a   Ouertani, I ^a,b   Chaabouni Bouhamed, H ^a,b  

^a UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^b CHARLES NICOLLE HOSPITAL   (Tunisia)

Author keywords

Bardet Biedl syndrome; Molecular diagnosis; Next generation sequencing

Indexed keywords

ALLELE; ALLELISM; BARDET BIEDL SYNDROME; CLINICAL FEATURE; CLINICAL STUDY; COGNITIVE DEFECT; FAMILY COUNSELING; GENETIC ANALYSIS; GENETIC COUNSELING; GENITAL MALFORMATION; GENOTYPE PHENOTYPE CORRELATION; HIGH RISK POPULATION; HUMAN; HYPOGONADISM; KIDNEY MALFORMATION; LIMB MALFORMATION; MOLECULAR GENETICS; NONHUMAN; OBESITY; POLYDACTYLY; PRIORITY JOURNAL; RETINA DEGENERATION; REVIEW; BBS1 GENE; BBS10 GENE; BBS11 GENE; BBS12 GENE; BBS13 GENE; BBS14 GENE; BBS15 GENE; BBS16 GENE; BBS17 GENE; BBS18 GENE; BBS2 GENE; BBS3 GENE; BBS4 GENE; BBS5 GENE; BBS6 GENE; BBS7 GENE; BBS8 GENE; BBS9 GENE; GENE; GENE MUTATION; GENETIC RISK; KIDNEY FAILURE; MEDICAL GENETICS; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING;

EID: 84896312636     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000357054     Document Type: Review

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