Pendred syndrome among patients with congenital hypothyroidism detected by neonatalscreening: Identification of two novel PDS/SLC26A4 mutations

European Journal of Pediatrics

Volumn 167, Issue 7, 2008, Pages 777-783

  Banghova, Karolina ^a   Taji, Eva Al ^a   Cinek, Ondrej ^a,d   Novotna, Dana ^b   Pourova, Radka ^a   Zapletalova, Jirina ^c   Hnikova, Olga ^a   Lebl, Jan ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^c PALACKÝ UNIVERSITY   (Czech Republic)

^d UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

Congenital hypothyroidism; PDS; Pendrin; Sensorineural hearing loss; SLC26A4

Indexed keywords

ASPARTIC ACID; CYTOSINE; DNA; GUANINE; HISTIDINE; PENDRIN; POLYDIOXANONE; THYROID HORMONE; THYROTROPIN; TYROSINE; VALINE;

ADOLESCENT; ALLELE; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL EVALUATION; CONGENITAL HYPOTHYROIDISM; CZECH REPUBLIC; DNA SEQUENCE; EVOKED BRAIN STEM AUDITORY RESPONSE; EXON; FAMILY HISTORY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HEARING LOSS; HETEROZYGOSITY; HUMAN; INTRON; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEWBORN SCREENING; OTOACOUSTIC EMISSION; PENDRED SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; RARE DISEASE; SCHOOL CHILD; THYROID HORMONE BLOOD LEVEL; THYROTROPIN BLOOD LEVEL;

ADOLESCENT; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; CHILD; CONGENITAL HYPOTHYROIDISM; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; PEDIGREE; SYNDROME;

EID: 44349146174     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-007-0588-7     Document Type: Article

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