Congenital central hypothyroidism due to homozygous thyrotropin β 313δT mutation is caused by a founder effect

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 10, 2002, Pages 4811-4816

  Brumm, Harald ^a   Pfeufer, Arne ^b,d   Biebermann, Heike ^c   Schnabel, Dirk ^a   Deiss, Dorothee ^b   Grüters, Annette ^b  

^a HUMBOLDT UNIVERSITY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

THYROTROPIN;

BETA CHAIN; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPOTHYROIDISM; INFANT; MALE; MICROSATELLITE MARKER; MONOPHYLY; NEWBORN; NEWBORN SCREENING; POPULATION GENETICS; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; FEMALE; GENE FREQUENCY; GERMANY; HAPLOTYPES; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; HYPOTHYROIDISM; INFANT, NEWBORN; MALE; MICROSATELLITE REPEATS; MUTATION; NEONATAL SCREENING; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; THYROTROPIN;

EID: 0036775542     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-020297     Document Type: Review

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