Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene

Journal of Pediatrics

Volumn 139, Issue 6, 2001, Pages 887-891

  Pohlenz, Joachim ^a,b   Sadow, Peter M ^a,b   Koffler, Thomas ^a,b   Schönberger, Winfried ^a,b   Weiss, Roy E ^a,b   Refetoff, Samuel ^a,b  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LEVOTHYROXINE; LIOTHYRONINE; THYROID HORMONE; THYROTROPIN; THYROXINE;

ARTICLE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; DNA DETERMINATION; FAMILIAL DISEASE; FAMILIAL DYSALBUMINEMIC HYPERTHYROXINEMIA; GENE MUTATION; HORMONAL THERAPY; HUMAN; IMMUNOASSAY; ISOELECTRIC FOCUSING; LIOTHYRONINE BLOOD LEVEL; MALE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; THYROID FUNCTION TEST; THYROID SCINTISCANNING; THYROXINE BLOOD LEVEL;

EID: 0035663360     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2001.119594     Document Type: Article

References (17)

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14. Inherited abnormal thyroid hormone-binding protein causing selective increase of total serum thyroxine
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16. Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia
17. Hypermutability of CpG dinucleotides in the propeptide-encoding sequence of the human albumin gene