Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 6, 2011, Pages

  Hermanns, Pia ^a   Grasberger, Helmut ^b,c   Refetoff, Samuel ^b   Pohlenz, Joachim ^a  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b UNIVERSITY OF CHICAGO   (United States)

^c UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LEVOTHYROXINE; LIOTHYRONINE; THYROGLOBULIN; THYROTROPIN; THYROXINE; TRANSCRIPTION FACTOR NKX2.5;

ARTICLE; CASE REPORT; CELL NUCLEUS; CELLULAR DISTRIBUTION; CHILD; DIO2 GENE; FEMALE; FOLLOW UP; GEL MOBILITY SHIFT ASSAY; GENE EXPRESSION; GENE SEQUENCE; HELA CELL; HETEROZYGOSITY; HUMAN; HYPOTHYROIDISM; IMMUNOFLUORESCENCE MICROSCOPY; LIOTHYRONINE BLOOD LEVEL; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; NK2 TRANSCRIPTION FACTOR RELATED LOCUS 5 GENE; NKE 2 GENE; PAIRED BOX GENE 8; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; TG GENE; THYROGLOBULIN BLOOD LEVEL; THYROID DYSGENESIS; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; TPO GENE; TRANSACTIVATION; TRANSCRIPTION INITIATION;

CONGENITAL HYPOTHYROIDISM; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PROMOTER REGIONS, GENETIC; THYROID DYSGENESIS; TRANSCRIPTION FACTORS;

EID: 79956331473     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-2341     Document Type: Article

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