A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract

Thyroid

Volumn 23, Issue 9, 2013, Pages 1074-1078

  Carvalho, Ana ^a   Hermanns, Pia ^b   Rodrigues, Ana Luísa ^a   Sousa, Isabel ^a   Anselmo, João ^a   Bikker, Hennie ^c   Cabral, Rita ^a   Pereira Duarte, Carlos ^a   Mota Vieira, Luísa ^a   Pohlenz, Joachim ^b  

^a HOSPITAL DO DIVINO ESPÍRITO SANTO   (Portugal)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; LEVOTHYROXINE; LUCIFERASE; PROLINE; THYROGLOBULIN; TRANSCRIPTION FACTOR PAX8; PAIRED BOX TRANSCRIPTION FACTOR; PAX8 PROTEIN, HUMAN; THYROXINE;

ADULT; ARTICLE; ASSAY; CATCH UP GROWTH; CODON; CONGENITAL HYPOTHYROIDISM; CONSTIPATION; CONTROLLED STUDY; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DNA BINDING; ELECTROPHORESIS; FAMILY; FLUORESCENCE MICROSCOPY; GENE MUTATION; GENE SEQUENCE; HORSESHOE KIDNEY; HUMAN; HUMAN CELL; HYDROCELE; IN VITRO STUDY; INFANT; NEWBORN SCREENING; PRIORITY JOURNAL; PROGENY; STRABISMUS; SUCKLING; TERTIARY HEALTH CARE; THYROID GLAND; TRANSACTIVATION; TRANSCRIPTION INITIATION; TRANSIENT TRANSFECTION; ULTRASOUND; URETEROCELE; UROGENITAL TRACT MALFORMATION; CASE REPORT; GENETIC PREDISPOSITION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENETICS; HELA CELL LINE; HEREDITY; HETEROZYGOTE; MALE; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; TREATMENT OUTCOME; UROGENITAL ABNORMALITIES;

ADULT; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HEREDITY; HETEROZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; PHENOTYPE; THYROXINE; TRANSCRIPTION, GENETIC; TRANSCRIPTIONAL ACTIVATION; TRANSFECTION; TREATMENT OUTCOME; UROGENITAL ABNORMALITIES;

EID: 84884125512     PISSN: 10507256     EISSN: 15579077     Source Type: Journal    
DOI: 10.1089/thy.2012.0649     Document Type: Article

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