Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss

European Journal of Medical Genetics

Volumn 57, Issue 4, 2014, Pages 125-128

  Freitas, Érika L ^a   Oiticica, Jeanne ^a   Silva, Amanda G ^a   Bittar, Roseli S M ^a   Rosenberg, Carla ^a   Mingroni Netto, Regina C ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

5q32 deletion; ADNSHL; Autosomal dominant non syndromic hearing loss; DFNA15; POU4F3

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR POU4F3; HOMEODOMAIN PROTEIN; POU4F3 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS; CALORIC VESTIBULAR TEST; CASE REPORT; CELL DIFFERENTIATION; CELL MATURATION; CELL SURVIVAL; CHILD; CHROMOSOME 5; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; ELECTROOCULOGRAPHY; EVOKED BRAIN STEM AUDITORY RESPONSE; GENE DELETION; GENE FUNCTION; GENE LOCUS; GENETIC ASSOCIATION; GERM LINE; HAIR CELL; HEARING IMPAIRMENT; HUMAN; MALE; MUTATIONAL ANALYSIS; NYSTAGMUS; PEDIGREE; POU4F3 GENE; PURE TONE AUDIOMETRY; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; ADULT; CHROMOSOME DELETION; DOMINANT GENE; FAMILY HEALTH; FEMALE; GENETICS; HEARING LOSS, SENSORINEURAL; MIDDLE AGED; PROCEDURES;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; FAMILY HEALTH; FEMALE; GENE DELETION; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; PEDIGREE; TRANSCRIPTION FACTOR BRN-3C;

EID: 84898467552     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.02.006     Document Type: Article

References (5)

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