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Volumn 6, Issue 1, 1997, Pages 1-9

Pitfalls in practice - Diagnosis and misdiagnosis in Pendred syndrome

Author keywords

dilated vestibular aqueduct; Pendred syndrome; perchlorate test

Indexed keywords

IODIDE; PERCHLORATE; THYROTROPIN; THYROXINE;

EID: 8244263612     PISSN: 09637133     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (16)

References (19)
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  • 5
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  • 6
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    • Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
    • COYLE, B., COFFEY, R., ARMOUR, J.A.L. ET AL. (1996) Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nature Genetics 12, 412-23.
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  • 11
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  • 13
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    • When the triad of congenital hearing loss, goitre and perchlorate is not Pendred's syndrome
    • in press
    • O MAHONEY, C.F., LUXON, L.M., CHEW, S.L. ET AL. (1996, in press) When the triad of congenital hearing loss, goitre and perchlorate is not Pendred's syndrome. Journal of Audiological Medicine 5, (3), 157-65
    • (1996) Journal of Audiological Medicine , vol.5 , Issue.3 , pp. 157-165
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  • 14
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  • 17
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    • Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification
    • SHEFFIELD, V.C., KRAIEM, Z., BECK, J.C. ET AL. (1996) Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. Nature Genetics 12, 424-6.
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  • 19


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.