Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: Defining a strategy for molecular diagnosis

Clinical Genetics

Volumn 85, Issue 2, 2014, Pages 172-177

  M'hamdi, O ^a   Redin, C ^b   Stoetzel, C ^b   Ouertani, I ^a,c   Chaabouni, M ^a,c   Maazoul, F ^c   M'rad, R ^a,c   Mandel, J L ^b,d,e   Dollfus, H ^b,d   Muller, J ^b,d   Chaabouni, H ^a,c  

^a UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c CHARLES NICOLLE HOSPITAL   (Tunisia)

^d UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^e Laboratoire de Diagnostic Génétique ^*  (France)

Author keywords

Bardet Biedl syndrome; Genotype phenotype correlation; Mutation; Next generation sequencing

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BARDET BIEDL SYNDROME; BIOINFORMATICS; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; EXON; FEMALE; GENE DELETION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HIGH THROUGHPUT SEQUENCING; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TUNISIA; YOUNG ADULT; BIOLOGY; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE;

BBS1 PROTEIN, HUMAN; BBS10 PROTEIN, HUMAN; BBS2 PROTEIN, HUMAN; CHAPERONIN; MICROTUBULE ASSOCIATED PROTEIN; MKKS PROTEIN, HUMAN; PROTEIN;

BARDET-BIEDL SYNDROME; BASE SEQUENCE; COMPUTATIONAL BIOLOGY; GROUP II CHAPERONINS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR SEQUENCE DATA; PHENOTYPE; PROTEINS; TUNISIA;

EID: 84892481717     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12129     Document Type: Article

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