Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-β gene: Phenotypic variability and founder effect

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 8, 2004, Pages 4136-4141

  Borck, Guntram ^a,b   Topaloglu, A Kemal ^c   Korsch, Eckhard ^d   Martiné, Ursula ^a   Wildhardt, Gabriele ^a   Onenli Mungan, Neslihan ^c   Yuksel, Bilgin ^c   Aumann, Ulrich ^e   Koch, Gerhard ^e   Ozer, Guler ^c   Pfäffle, Roland ^f   Scherberg, Neal H ^g   Refetoff, Samuel ^g   Pohlenz, Joachim ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c CUKUROVA UNIVERSITY   (Turkey)

^d Children's Hospital   (Germany)

^e Allgemeines Krankenhaus Hagen gem GmbH   (Germany)

^f UNIVERSITY OF LEIPZIG   (Germany)

^g UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; MONOCLONAL ANTIBODY; THYROID HORMONE; THYROTROPIN; THYROTROPIN BETA SUBUNIT; THYROXINE;

ARTICLE; BLOOD EXAMINATION; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; DIFFERENTIAL DIAGNOSIS; DIMERIZATION; EXON; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENOTYPE; HAPLOTYPE; HORMONE DEFICIENCY; HORMONE SUBSTITUTION; HUMAN; INFANT; MALE; NEWBORN; PHENOTYPE; PHENOTYPIC VARIATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; START CODON; THYROTROPIN BLOOD LEVEL; THYROTROPIN RELEASE; TURKEY (REPUBLIC);

ADENINE; CHILD; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; FEMALE; FOUNDER EFFECT; GUANINE; HAPLOTYPES; HOMOZYGOTE; HUMANS; HYPOTHYROIDISM; INFANT; INFANT, NEWBORN; INTRONS; MALE; MUTATION; PEDIGREE; PHENOTYPE; THYROTROPIN; THYROTROPIN, BETA SUBUNIT;

EID: 4043162952     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-0494     Document Type: Article

References (26)

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