Novel TSHβ subunit gene mutation causing congenital central hypothyroidism in a newborn male

Journal of Pediatric Endocrinology and Metabolism

Volumn 17, Issue 3, 2004, Pages 355-359

  Morales, Alba E ^a,c   Shi, Jing Da ^a   Wang, Cong Yi ^b   She, Jin Xiong ^b   Muir, Andrew ^b  

^a UNIVERSITY OF FLORIDA   (United States)

^b MEDICAL COLLEGE OF GEORGIA   (United States)

^c Dept of Pediatric Endocrinology ^*  (United States)

Author keywords

Central hypothyroidism; Compound heterozygote; TSH; TSH gene

Indexed keywords

DISULFIDE; LEVOTHYROXINE; NUCLEOTIDE; PROTIRELIN; THYREL; THYROTROPIN; THYROTROPIN BETA SUBUNIT; THYROXINE; DIAGNOSTIC AGENT;

ARTICLE; CASE REPORT; CODON; CONGENITAL HYPOTHYROIDISM; DISULFIDE BOND; EXON; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HETEROZYGOSITY; HORMONE DEFICIENCY; HORMONE DETERMINATION; HUMAN; MALE; MUTATIONAL ANALYSIS; NEWBORN; STOP CODON; BLOOD; DNA SEQUENCE; FERTILIZATION IN VITRO; GENETICS; HETEROZYGOTE; HORMONE SUBSTITUTION; HYPOTHYROIDISM; INTRAVENOUS DRUG ADMINISTRATION; MUTATION; TIME; TREATMENT OUTCOME;

CONGENITAL HYPOTHYROIDISM; FERTILIZATION IN VITRO; HETEROZYGOTE; HORMONE REPLACEMENT THERAPY; HUMANS; HYPOTHYROIDISM; INFANT, NEWBORN; INFUSIONS, INTRAVENOUS; MALE; MUTATION; SEQUENCE ANALYSIS, DNA; THYROTROPIN, BETA SUBUNIT; THYROTROPIN-RELEASING HORMONE; THYROXINE; TIME FACTORS; TREATMENT OUTCOME;

EID: 3142660594     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2004.17.3.355     Document Type: Article

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