Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations

Clinical Genetics

Volumn 85, Issue 5, 2014, Pages 476-481

  Schaefer, E ^a   Lauer, J ^a   Durand, M ^a   Pelletier, V ^b   Obringer, C ^a   Claussmann, A ^a   Braun, J J ^b   Redin, C ^c   Mathis, C ^b   Muller, J ^b,c   Schmidt Mutter, C ^b   Flori, E ^b   Marion, V ^a   Stoetzel, C ^a   Dollfus, H ^a,b  

^a INSERM U1112   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^c INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

Bardet Biedl syndrome; Ciliopathy; LZTFL1 gene; Mesoaxial polydactyly

Indexed keywords

LZTFL1 PROTEIN; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG; LZTFL1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; ALLELE; ARTICLE; BARDET BIEDL SYNDROME; CASE REPORT; CHRONIC KIDNEY FAILURE; CLINICAL EVALUATION; CLINICAL FEATURE; ELECTRORETINOGRAM; FEMALE; FOOT RADIOGRAPHY; GENE; GENOTYPE PHENOTYPE CORRELATION; HAND RADIOGRAPHY; HUMAN; HUMAN CELL; HYPOSMIA; KIDNEY TRANSPLANTATION; LZTFL1 GENE; MESOAXIAL POLYDACTYLY; METACARPAL BONE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RETINA DYSTROPHY; SYNOSTOSIS; TWIN ZYGOSITY; WESTERN BLOTTING; FINGER; GENETICS; HETEROZYGOTE; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; TOE; TWINS;

ADULT; BARDET-BIEDL SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; FINGERS; HETEROZYGOTE; HUMANS; MUTATION; PEDIGREE; POLYDACTYLY; TOES; TRANSCRIPTION FACTORS; TWINS;

EID: 84897392615     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12198     Document Type: Article

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