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rdf:type |
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lifeskim:mentions |
umls-concept:C0010308,
umls-concept:C0018021,
umls-concept:C0020792,
umls-concept:C0021966,
umls-concept:C0026882,
umls-concept:C0037473,
umls-concept:C0086282,
umls-concept:C0205314,
umls-concept:C0598849,
umls-concept:C0679622,
umls-concept:C0702111,
umls-concept:C1880022
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pubmed:issue |
12
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|
pubmed:dateCreated |
2009-12-17
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pubmed:abstractText |
Iodide transport defects (ITDs), rare causes of congenital hypothyroidism (CH), have been shown to arise from abnormalities of the sodium/iodide symporter (NIS). We describe a 16-year-old girl with CH caused by an ITD resulting from a novel mutation of NIS.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1557-9077
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pubmed:author |
pubmed-author:AgrettiPatriziaP,
pubmed-author:BagattiniBrunellaB,
pubmed-author:BrozziFedericaF,
pubmed-author:CeccarelliClaudiaC,
pubmed-author:CerboneManuelaM,
pubmed-author:LettieroTeresaT,
pubmed-author:MarcoGiuseppina deG,
pubmed-author:MontanelliLuciaL,
pubmed-author:PincheraAldoA,
pubmed-author:SalernoMariacarolinaM,
pubmed-author:TonaccheraMassimoM,
pubmed-author:VittiPaoloP
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pubmed:issnType |
Electronic
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pubmed:volume |
19
|
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
1419-25
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pubmed:meshHeading |
pubmed-meshheading:19916865-Adolescent,
pubmed-meshheading:19916865-Animals,
pubmed-meshheading:19916865-Base Sequence,
pubmed-meshheading:19916865-COS Cells,
pubmed-meshheading:19916865-Cercopithecus aethiops,
pubmed-meshheading:19916865-Congenital Hypothyroidism,
pubmed-meshheading:19916865-Female,
pubmed-meshheading:19916865-Goiter,
pubmed-meshheading:19916865-Heterozygote,
pubmed-meshheading:19916865-Homozygote,
pubmed-meshheading:19916865-Humans,
pubmed-meshheading:19916865-Infant, Newborn,
pubmed-meshheading:19916865-Male,
pubmed-meshheading:19916865-Molecular Sequence Data,
pubmed-meshheading:19916865-Neonatal Screening,
pubmed-meshheading:19916865-Pedigree,
pubmed-meshheading:19916865-Symporters,
pubmed-meshheading:19916865-Thyroglobulin,
pubmed-meshheading:19916865-Thyroid Gland
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pubmed:year |
2009
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pubmed:articleTitle |
Congenital hypothyroidism and late-onset goiter: identification and characterization of a novel mutation in the sodium/iodide symporter of the proband and family members.
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pubmed:affiliation |
Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
