Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRβ2 gene

Ophthalmic Genetics

Volumn 33, Issue 4, 2012, Pages 187-195

  Weiss, Avery H ^a,b   Kelly, John P ^a,b   Bisset, Darren ^c   Deeb, Samir S ^c  

^a SEATTLE CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Cone opsins; Electroretinography; Thyroid hormone receptor beta 2

Indexed keywords

CONE OPSIN; HOMODIMER; PROPRANOLOL; THYROGLOBULIN; THYROID HORMONE RECEPTOR BETA; THYROTROPIN; THYROXINE;

ACCOMMODATION PARALYSIS; ARTICLE; B WAVE; CASE REPORT; COLOR VISION; CONE PHOTORECEPTOR DISORDER; CONGENITAL DISORDER; CONVERGENT STRABISMUS; DISEASE SEVERITY; DNA DETERMINATION; DNA SEQUENCE; ELECTRORETINOGRAPHY; EXON; FREE THYROXINE INDEX; GENE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENOME; HETEROZYGOSITY; HORMONE RESPONSIVE ELEMENT; HUMAN; INFANT; LIGAND BINDING; LIGHT; MALE; MEDICAL DOCUMENTATION; MOLECULAR CLONING; NYSTAGMUS; OPN1LW GENE; OPN1MW GENE; PHENOTYPE; PHOTOPIC VISION; PHOTORECEPTOR; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STANDARD; SUPRAVENTRICULAR TACHYCARDIA; THYROGLOBULIN BLOOD LEVEL; THYROID HORMONE RECEPTOR BETA 2 GENE; THYROID HORMONE RESISTANCE; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; TRACHEOMALACIA; UPPER RESPIRATORY TRACT OBSTRUCTION; VISUAL ACUITY; VISUAL DISORDER; VISUAL SYSTEM FUNCTION;

COLOR VISION DEFECTS; CONE OPSINS; DARK ADAPTATION; ELECTRORETINOGRAPHY; EXONS; GENE AMPLIFICATION; HUMANS; INFANT; MALE; NYSTAGMUS, CONGENITAL; PHOTIC STIMULATION; POINT MUTATION; POLYMERASE CHAIN REACTION; RETINAL CONE PHOTORECEPTOR CELLS; ROD OPSINS; THYROID HORMONE RECEPTORS BETA; THYROID HORMONE RESISTANCE SYNDROME; VISION DISORDERS;

EID: 84867627498     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.681096     Document Type: Article

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