Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: Molecular and in silico studies

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 2, 2008, Pages 627-633

  Deladoëy, Johnny ^a   Pfarr, Nicole ^b   Vuissoz, Jean Marc ^c   Parma, Jasmine ^b,d   Vassart, Gilbert ^d   Biesterfeld, Stefan ^b   Pohlenz, Joachim ^b,d   Van Vliet, Guy ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^c UNIVERSITY OF BERN   (Switzerland)

^d FREE UNIVERSITY OF BRUSSELS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; GLUTAMINE; TECHNETIUM 99M; THYROID PEROXIDASE; THYROTROPIN; TRANSCRIPTION FACTOR PAX8;

ARTICLE; CANADA; CLINICAL ARTICLE; COMPUTER MODEL; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DISEASE SEVERITY; DOMINANT INHERITANCE; ELECTRICITY; EUTHYROIDISM; GENE INSERTION; GOITER; HETEROZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; ISOTOPE LABELING; MALE; MISSENSE MUTATION; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; THYROTROPIN BLOOD LEVEL;

EID: 39049085332     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-2276     Document Type: Article

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