Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G→A [R2223H]) resulting in fetal goitrous hypothyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 8, 2003, Pages 3546-3553

  Caron, Philippe ^a   Moya, Christian M ^b   Malet, David ^a   Gutnisky, Viviana J ^b   Chabardes, Bernard ^c   Rivolta, Carina M ^b   Targovnik, Héctor M ^b  

^a CHU RANGUEIL   (France)

^b UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^c Clinique Sarrus Teinturiers   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINESTERASE; LEVOTHYROXINE; THYROGLOBULIN; THYROTROPIN; THYROXINE;

ADULT; APGAR SCORE; ARTICLE; CASE REPORT; CONGENITAL GOITER; CONGENITAL HYPOTHYROIDISM; CORDOCENTESIS; DNA SEQUENCE; ECHOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GOITER; HETEROZYGOTE; HUMAN; INTRAAMNIOTIC DRUG ADMINISTRATION; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRENATAL SCREENING; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SIBLING; STOP CODON; THYROGLOBULIN GENE; THYROID GLAND; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; UMBILICAL CORD BLOOD;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; EXONS; FEMALE; FRAMESHIFT MUTATION; GOITER; HUMANS; HYPOTHYROIDISM; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE DELETION; THYROGLOBULIN; THYROID FUNCTION TESTS;

EID: 0041883376     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-021744     Document Type: Article

References (52)

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