Severe congenital hypothyroidism due to a homozygous mutation of the βTSH gene

Pediatric Research

Volumn 46, Issue 2, 1999, Pages 170-173

  Biebermann, Heike ^a   Liesenkötter, Klaus Peter ^a   Emeis, Michael ^a   Obladen, Michael ^a   Grüters, Annette ^a,b  

^a HUMBOLDT UNIVERSITY   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; THYROID HORMONE; THYROTROPIN; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BETA CHAIN; CASE REPORT; CONGENITAL HYPOTHYROIDISM; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; STOP CODON; THYROID HORMONE BLOOD LEVEL;

EID: 0345426343     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199908000-00007     Document Type: Article

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