SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): Evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

Journal of Medical Genetics

Volumn 42, Issue 2, 2005, Pages 159-165

  Pryor, S P ^a   Madeo, A C ^a   Reynolds, J C ^b   Sarlis, N J ^c,g   Arnos, K S ^d   Nance, W E ^e   Yang, Y ^f   Zalewski, C K ^a   Brewer, C C ^a   Butman, J A ^b   Griffith, A J ^a,f  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^d GALLAUDET UNIVERSITY   (United States)

^e VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^f NATIONAL INSTITUTES OF HEALTH   (United States)

^g UNIVERSITY OF TEXAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IODINE 123; POTASSIUM PERCHLORATE; PROTEIN DERIVATIVE; SLC26A4 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENOTYPE PHENOTYPE CORRELATION; GOITER; HAPLOTYPE; HUMAN; INNER EAR MALFORMATION; MALE; MICROSATELLITE MARKER; NUCLEAR MAGNETIC RESONANCE IMAGING; PENDRED SYNDROME; PRIORITY JOURNAL; ULTRASOUND; VESTIBULE AQUEDUCT; ZYGOSITY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; SYNDROME; VESTIBULAR AQUEDUCT;

EID: 13444254030     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.024208     Document Type: Article

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