CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome

PLoS ONE

Volumn 6, Issue 9, 2011, Pages

  Song, Mee Hyun ^a   Cho, Hyun Ju ^b   Lee, Hee Keun ^b   Kwon, Tae Jun ^b   Lee, Won Sang ^c   Oh, Sanghee ^c   Bok, Jinwoong ^c   Choi, Jae Young ^c   Kim, Un Kyung ^b  

^a Kwandong University College of Medicine   (South Korea)

^b Kyungpook National University   (South Korea)

^c Yonsei University College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; APLASIA; ARTICLE; AUDITORY REHABILITATION; CHD7 GENE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; ETHNIC GROUP; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; IMPLANTATION; INFANT; KOREAN; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; NONSENSE MUTATION; PATHOGENICITY; PRESCHOOL CHILD; SCHOOL CHILD; SEMICIRCULAR CANAL APLASIA; SPLICE SITE MUTATION; SYNDROME CHARGE; VESTIBULOCOCHLEAR NERVE DEFICIENCY; COCHLEA; CONGENITAL MALFORMATION; FAMILY HEALTH; GENETICS; METHODOLOGY; NUCLEOTIDE SEQUENCE; STOP CODON; VESTIBULAR NERVE;

CHD7 PROTEIN, HUMAN; DNA BINDING PROTEIN; HELICASE;

ADOLESCENT; ADULT; AUDITORY BRAIN STEM IMPLANTATION; CHARGE SYNDROME; CHILD; CHILD, PRESCHOOL; COCHLEA; COCHLEAR IMPLANTATION; CODON, NONSENSE; DEAFNESS; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; GENETIC VARIATION; HUMANS; INFANT; MALE; MUTATION, MISSENSE; VESTIBULAR NERVE;

EID: 80052702437     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0024511     Document Type: Article

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