Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland

Journal of Clinical Investigation

Volumn 99, Issue 12, 1997, Pages 3018-3024

  Abramowicz, Marc J ^a   Duprez, Laurence ^b,c   Parma, Jasmine ^a,c   Vassart, Gilbert ^a,c   Heinrichs, Claudine ^b  

^a ERASME HOSPITAL   (Belgium)

^b HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^c UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

Author keywords

Congenital hypothyroidism; Thyroglobulin; Thyroid agenesis; Thyrotropin receptor

Indexed keywords

CYCLIC AMP; THYROGLOBULIN; THYROTROPIN RECEPTOR;

AGENESIS; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; FAMILIAL DISEASE; GENE MUTATION; HUMAN; MALE; NEWBORN; NEWBORN SCREENING; PEDIGREE ANALYSIS; PRIORITY JOURNAL; THYROID DISEASE;

EID: 0030994365     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119497     Document Type: Article

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