Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

European Journal of Human Genetics

Volumn 23, Issue 5, 2015, Pages 621-627

  Thomas, Sophie ^a,b   Cantagrel, Vincent ^a,b,c   Mariani, Laura ^d   Serre, Valérie ^a,e   Lee, Ji Eun ^c   Elkhartoufi, Nadia ^a,b   De Lonlay, Pascale ^a,b   Desguerre, Isabelle ^a   Munnich, Arnold ^a,b   Boddaert, Nathalie ^a   Lyonnet, Stanislas ^a,b   Vekemans, Michel ^a,b   Lisgo, Steven N ^f   Caspary, Tamara ^d   Gleeson, Joseph ^c   Attié Bitach, Tania ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e INSTITUT JACQUES MONOD   (France)

^f WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE RIBOSYLATION FACTOR; ADENOSINE DIPHSPHATE RIBOSYLATION FACTOR LIKE PROTEIN 13B; UNCLASSIFIED DRUG; ARL13B PROTEIN, HUMAN;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; EMBRYO; EUKARYOTIC FLAGELLUM; FIBROBLAST; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; INFANT; JOUBERT SYNDROME; MALE; MOUSE; NERVE CELL; NONHUMAN; OBESITY; PHENOTYPE; PRIORITY JOURNAL; RETINOPATHY; ZEBRA FISH; AMINO ACID SEQUENCE; ANIMAL; BIOLOGY; BRAIN; CASE REPORT; CEREBELLAR DISEASES; CHEMISTRY; CONSANGUINITY; DISEASE MODEL; DNA SEQUENCE; EYE DISEASES, HEREDITARY; GENETIC LINKAGE; GENETICS; HOMOZYGOTE; IMMUNOHISTOCHEMISTRY; METABOLISM; MOLECULAR GENETICS; MOLECULAR MODEL; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PEDIGREE; PROTEIN CONFORMATION; RETINAL DISEASES; SEQUENCE ALIGNMENT;

DANIO RERIO; SCORPIONES; VERTEBRATA;

ADP-RIBOSYLATION FACTORS; AMINO ACID SEQUENCE; ANIMALS; BRAIN; CEREBELLAR DISEASES; COMPUTATIONAL BIOLOGY; CONSANGUINITY; DISEASE MODELS, ANIMAL; EYE DISEASES, HEREDITARY; GENETIC LINKAGE; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MICE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; OBESITY; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; RETINAL DISEASES; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; ZEBRAFISH;

EID: 84928071258     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.156     Document Type: Article

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