Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: A cross-sectional, multi-center next-generation sequencing study

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Mutai, Hideki ^a   Suzuki, Naohiro ^a   Shimizu, Atsushi ^b   Torii, Chiharu ^c   Namba, Kazunori ^a   Morimoto, Noriko ^d   Kudoh, Jun ^c   Kaga, Kimitaka ^a   Kosaki, Kenjiro ^c   Matsunaga, Tatsuo ^a  

^a NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^b IWATE MEDICAL UNIVERSITY   (Japan)

^c KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Deafness gene; Hereditary hearing loss; Heterogeneity; Target gene capture

Indexed keywords

ACTG1 PROTEIN; CDH23 PROTEIN; DFNA5 PROTEIN; GENOMIC DNA; MYOSIN VIIA; PCDH15 PROTEIN; PRESTIN; TRANSCRIPTION FACTOR POU4F3; TRANSCRIPTION FACTOR SIX1; UNCLASSIFIED DRUG; USH2A PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DEAFNESS; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DNA SEQUENCE; DNA SEQUENCING SYSTEM; EXON; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; HUMAN; INFORMATION PROCESSING DEVICE; INTRON; JAPANESE; MEDICAL DEVICE; MEDICAL RECORD REVIEW; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SCHOOL CHILD; VESTIBULE AQUEDUCT; VESTIBULOCOCHLEAR NERVE DISEASE;

ANION TRANSPORT PROTEINS; ASIAN CONTINENTAL ANCESTRY GROUP; CADHERINS; CROSS-SECTIONAL STUDIES; DEAFNESS; GENETIC TESTING; HEARING LOSS; HEARING LOSS, SENSORINEURAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMEODOMAIN PROTEINS; HUMANS; MYOSINS; TRANSCRIPTION FACTOR BRN-3C; USHER SYNDROMES;

EID: 84886216330     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-172     Document Type: Article

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