Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: Clinical, biochemical, and genetic analyses of three related patients

The Lancet Diabetes and Endocrinology

Volumn 2, Issue 8, 2014, Pages 619-626

  Moran, Carla ^a   Agostini, Maura ^a   Visser, W Edward ^a   Schoenmakers, Erik ^a   Schoenmakers, Nadia ^a   Offiah, Amaka C ^c   Poole, Ken ^b   Rajanayagam, Odelia ^a   Lyons, Greta ^a   Halsall, David ^b   Gurnell, Mark ^a   Chrysis, Dionisios ^d   Efthymiadou, Alexandra ^d   Buchanan, Charles ^e   Aylwin, Simon ^e   Chatterjee, Krishna K ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF SHEFFIELD   (United Kingdom)

^d UNIVERSITY OF PATRAS   (Greece)

^e KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CREATINE KINASE; LIOTHYRONINE; THYROID HORMONE; THYROID HORMONE RECEPTOR ALPHA; THYROID HORMONE RECEPTOR ALPHA1; THYROID HORMONE RECEPTOR ALPHA2; THYROTROPIN; THYROXINE; UNCLASSIFIED DRUG; VALINE; ISOPROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ANEMIA; APRAXIA; ARTICLE; BIOCHEMISTRY; BLOOD CELL; CALVARIA; CASE REPORT; CONSTIPATION; DEVELOPMENTAL DISORDER; FACE MALFORMATION; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GROWTH DISORDER; HETEROZYGOSITY; HUMAN; HYPEROSTOSIS; HYPOTHYROIDISM; IN VITRO STUDY; MACROCEPHALY; MALE; MIDDLE AGED; MISSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPEECH DISORDER; THRA1 GENE; THRA2 GENE; THYROID HORMONE RESISTANCE; TREATMENT OUTCOME; AGONISTS; ALTERNATIVE RNA SPLICING; FAMILY HEALTH; GAIT APRAXIA; GENETICS; HETEROZYGOTE; MEGALENCEPHALY; METABOLISM; PATHOPHYSIOLOGY; POLYPS; SKIN NEOPLASMS; SPEECH DISORDERS; THYROID HORMONE RESISTANCE SYNDROME;

ADULT; ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; FAMILY HEALTH; FEMALE; GAIT APRAXIA; HETEROZYGOTE; HUMANS; MALE; MEGALENCEPHALY; MIDDLE AGED; MUTATION, MISSENSE; POLYPS; PROTEIN ISOFORMS; SKIN NEOPLASMS; SPEECH DISORDERS; THYROID HORMONE RECEPTORS ALPHA; THYROID HORMONE RESISTANCE SYNDROME; THYROXINE; TREATMENT OUTCOME;

EID: 84906939129     PISSN: 22138587     EISSN: 22138595     Source Type: Journal    
DOI: 10.1016/S2213-8587(14)70111-1     Document Type: Article

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