Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome

International Journal of Pediatric Otorhinolaryngology

Volumn 69, Issue 8, 2005, Pages 1123-1128

  Sung, Hee Kim ^a   Shin, Jong Hun ^a   Yeo, Chang Ki ^a   Soon, Hee Chang ^a   Park, Su Yon ^b   Eun, Hae Cho ^b   Ki, Chang Seok ^b   Kim, Jong Won ^b  

^a Daegu Fatima Hospital   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

BOR; Branchio oto renal syndrome; EYA1; Korean; Mutation

Indexed keywords

ADULT; ARTICLE; BRANCHIOOTORENAL SYNDROME; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC PROCEDURE; EYA1 GENE; FAMILY; FEMALE; GENE; GENE EXPRESSION; GENE INSERTION; GENETIC ANALYSIS; HEARING AID; HUMAN; MEDICAL EXAMINATION; NUCLEOTIDE SEQUENCE; OTITIS MEDIA; PRESCHOOL CHILD; PRIORITY JOURNAL;

BASE SEQUENCE; BRANCHIO-OTO-RENAL SYNDROME; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 8; DNA; EAR; FEMALE; HEARING AIDS; HEARING LOSS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY; KOREA; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; PROTEIN-TYROSINE-PHOSPHATASE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 21844475195     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijporl.2005.03.003     Document Type: Article

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