Severe form of thyroid hormone resistance in a patient with homozygous/hemizygous mutation of T3 receptor gene

European Journal of Endocrinology

Volumn 150, Issue 6, 2004, Pages 819-823

  Frank Raue, Karin ^d   Lorenz, Angela ^d   Haag, Christine ^d   Höppner, Wolfgang ^a   Boll, Hans Ullrich ^b   Knorr, Dietrich ^c   Hentze, Sabine ^d   Raue, Friedhelm ^d  

^a Inst fur Horm/Fertilitatsforschung   (Germany)

^b Johannes Anstalten ^*  (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d Endokrinol Humangenet Gemeinschaft   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; ATENOLOL; CYTOSINE; GUANINE; LEVOTHYROXINE; LIOTHYRONINE RECEPTOR; THIAMAZOLE; THYROID HORMONE; THYROID HORMONE RECEPTOR BETA; THYROTROPIN; THYROXINE; TYROSINE; THYROID HORMONE RECEPTOR;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL INHERITANCE; CASE REPORT; DISEASE SEVERITY; EUTHYROIDISM; FEMALE; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GOITER; HEARING IMPAIRMENT; HEMIZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERKINESIA; HYPERTHYROIDISM; HYPOTHYROIDISM; INTELLECTUAL IMPAIRMENT; NUCLEOTIDE REPEAT; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SYMPTOM; TACHYCARDIA; THYROID HORMONE RESISTANCE; THYROIDECTOMY; THYROTOXICOSIS; VISUAL IMPAIRMENT; AMINO ACID SEQUENCE; GENETICS; HOMOZYGOTE; MENTAL DEFICIENCY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; FEMALE; HOMOZYGOTE; HUMANS; HYPERKINESIS; MENTAL RETARDATION; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; RECEPTORS, THYROID HORMONE; TACHYCARDIA; THYROID HORMONE RESISTANCE SYNDROME;

EID: 3242705904     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1500819     Document Type: Article

References (15)

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