Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 7, 2000, Pages 2469-2475

  Fugazzola, Laura ^a,b   Mannavola, Deborah ^a,b   Cerutti, Nadia ^e   Maghnie, Mohamed ^e   Pagella, Fabio ^e   Bianchi, Paolo ^b   Weber, Giovanna ^f   Persani, Luca ^a,c   Beck Peccoz, Paolo ^a,d  

^a UNIVERSITY OF MILAN   (Italy)

^b HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^e UNIVERSITY OF PAVIA   (Italy)

^f Third Pediatric Clinic   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

IODINE 131; PERCHLORATE;

ADOLESCENT; ADULT; ARTICLE; BIOCHEMISTRY; CLINICAL ARTICLE; CLINICAL STUDY; FAMILY STUDY; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; GOITER; HETEROZYGOTE; HUMAN; INNER EAR MALFORMATION; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PENDRED SYNDROME; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AUDIOMETRY, PURE-TONE; DEAFNESS; DNA MUTATIONAL ANALYSIS; EAR, INNER; EXONS; FEMALE; GOITER; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; SYNDROME; THYROID FUNCTION TESTS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0034456619     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.85.7.2469     Document Type: Article

References (42)

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