A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans

European Journal of Medical Genetics

Volumn 54, Issue 5, 2011, Pages

  Mosrati, Mohamed Ali ^a   Hammami, Boutheina ^b   Rebeh, Imen Ben ^a   Ayadi, Leila ^a   Dhouib, Leila ^b   Ben mahfoudh, Khaireddine ^b   Hakim, Bochra ^a   Charfeddine, Ilhem ^b   Mnif, Jameleddine ^b   Ghorbel, Abdelmonem ^b   Masmoudi, Saber ^a  

^a CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^b HABIB BOURGUIBA HOSPITAL   (Tunisia)

Author keywords

Branchio otic syndrome; Branchio oto renal syndrome; Catweasel mouse; DFNA23; Hearing impairment; Mutation; Phenotypic heterogeneity; SIX1

Indexed keywords

GENOMIC DNA; GLUTAMIC ACID; LYSINE; MICROSATELLITE DNA; TRANSCRIPTION FACTOR EYA1; TRANSCRIPTION FACTOR SIX1; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; AUDIOMETRY; BRANCHIAL DEFECT; BRANCHIOOTIC SYNDROME; BRANCHIOOTORENAL SYNDROME; CONTROLLED STUDY; DISEASE SEVERITY; DNA BINDING; FAMILY STUDY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; HYPOACUSIS; KIDNEY MALFORMATION; OTOSCOPY; PHENOTYPE; STATIC ELECTRICITY; TUNISIA;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BRANCHIO-OTO-RENAL SYNDROME; CONSERVED SEQUENCE; EAR; FEMALE; HEARING LOSS; HOMEODOMAIN PROTEINS; HUMANS; KIDNEY; MALE; MICROSATELLITE REPEATS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT;

MUS;

EID: 79961127731     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.06.001     Document Type: Article

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