Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene

Journal of Pediatric Endocrinology and Metabolism

Volumn 21, Issue 5, 2008, Pages 479-486

  Chester, Jeremy ^a   Rotenstein, Deborah ^b,e,f   Ringkananont, Usanee ^c   Steuer, Guy ^b   Carlin, Beatrice ^d   Stewart, Lindsay ^e   Grasberger, Helmut ^c   Refetoff, Samuel ^c,f  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

^b DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

^d MERCY HOSPITAL OF PITTSBURGH   (United States)

^e Division of Endocrinology   (United States)

^f NONE   (United States)

Author keywords

Activating mutation; Neonatal hyperthyroidism; Thyrotropin receptor; TSHR

Indexed keywords

BUDESONIDE; LANSOPRAZOLE; LEVOTHYROXINE; POTASSIUM IODIDE; PROPRANOLOL; PROPYLTHIOURACIL; RANITIDINE; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; THYROTROPIN; THYROTROPIN RECEPTOR;

ARTICLE; AUTOIMMUNE DISEASE; CASE REPORT; DISEASE CLASSIFICATION; DISEASE COURSE; GENE MUTATION; GERM LINE; GRAVES DISEASE; HUMAN; HYPERTHYROIDISM; MALE; MATERNAL DISEASE; NEWBORN DISEASE; PLACENTAL TRANSFER; PRESCHOOL CHILD; RECEPTOR GENE; RESPIRATORY TRACT DISEASE; SIGNAL TRANSDUCTION; THYROTOXICOSIS;

EID: 46049092788     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2008.21.5.479     Document Type: Article

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