Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein

Clinical Endocrinology

Volumn 59, Issue 4, 2003, Pages 500-506

  Tonacchera, Massimo ^a   Agretti, Patrizia ^a   De Marco, Giuseppina ^a   Elisei, Rossella ^a   Perri, Anna ^a   Ambrogini, Elena ^a   De Servi, Melissa ^a   Ceccarelli, Claudia ^a   Viacava, Paolo ^a   Refetoff, Samuel ^d   Panunzi, Claudio ^b   Bitti, Maria Luisa Manca ^c   Vitti, Paolo ^a   Chiovato, Luca ^e   Pinchera, Aldo ^a  

^a UNIVERSITY OF PISA   (Italy)

^b REGINA APOSTOLORUM HOSPITAL   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d UNIVERSITY OF CHICAGO   (United States)

^e IRCCS   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

IODINE; IODINE 131; PROTEIN; RECOMBINANT THYROTROPIN; SODIUM IODIDE SYMPORTER PROTEIN; THYROTROPIN; THYROXINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CELL STRAIN COS7; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; CONSANGUINEOUS MARRIAGE; DISEASE COURSE; ENDOCRINE DISEASE; EXON; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC TRANSFECTION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRON; IODIDE TRANSPORT DEFECT; LONG TERM CARE; NODULAR GOITER; PRIORITY JOURNAL; SALIVARY GLAND; THYROID GLAND; TREATMENT OUTCOME;

ADULT; ANIMALS; CERCOPITHECUS AETHIOPS; CONGENITAL HYPOTHYROIDISM; COS CELLS; EXONS; FAMILY; FEMALE; GENE DELETION; HETEROZYGOTE; HUMANS; HYPOTHYROIDISM; IMMUNOHISTOCHEMISTRY; INTRONS; IODIDES; SYMPORTERS; THYROID GLAND; TRANSFECTION;

EID: 0141839677     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2003.01877.x     Document Type: Article

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