Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene

European Journal of Pediatrics

Volumn 162, Issue 10, 2003, Pages 674-677

  Massa, Guy ^a   Jaenen, Nele ^a   Janssens De Varebeke, Sebastien ^a   Peeters, Nils ^b   Wuyts, Wim ^b  

^a Virga Jesseziekenhuis ^*  (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Deafness; Hypothyroidism; Pendred syndrome; Thyroid nodule

Indexed keywords

LEVOTHYROXINE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DNA DETERMINATION; GENE; HUMAN; INTRON; LABORATORY TEST; MALE; MUTATIONAL ANALYSIS; PENDRED SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA ANALYSIS; SLC26A4 GENE; THYROID FUNCTION TEST; THYROID NODULE; TREATMENT OUTCOME;

CARRIER PROTEINS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, AGAR GEL; HEARING LOSS, SENSORINEURAL; HUMANS; INTRONS; MALE; MEMBRANE TRANSPORT PROTEINS; RNA SPLICE SITES; SYNDROME; THYROID NODULE;

EID: 0141958881     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-003-1281-0     Document Type: Article

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