Pendred syndrome among patients with hypothyroidism: Genetic diagnosis, phenotypic variability and occurrence of phenocopies;Pendredův syndrom u pacientů s hypotyreózou: Genetická diagnostika, fenotypová variabilita a výskyt fenokopií

Casopis Lekaru Ceskych

Volumn 147, Issue 12, 2008, Pages 616-622

  Banghova K ^a,b   Taji, Al ^a,b   Novotna D ^c   Zapletalova J ^d   Hnikova O ^b   Cap J ^e   Klabochova J ^f   Kusekova M ^g   Lebl, J ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^d PALACKÝ UNIVERSITY   (Czech Republic)

^e UNIVERSITY HOSPITAL HRADEC KRALOVE   (Czech Republic)

^f Nemocnice U Svateho Jiri   (Czech Republic)

^g Detská Fakultná Nemocnica Košice ^*  (Slovakia)

Author keywords

Congenital hypothyroidism; Dyshormonogenesis; Pendrin; Perdred syndrome; SLC26A4

Indexed keywords

CARRIER PROTEIN; SLC26A4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CONGENITAL HYPOTHYROIDISM; DNA SEQUENCE; FEMALE; GENETICS; GOITER; HUMAN; INFANT; MALE; MUTATION; PEDIGREE; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; FEMALE; GOITER; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SYNDROME; YOUNG ADULT;

EID: 59449092495     PISSN: 00087335     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

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