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A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature.

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Title: A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature.
Authors: Larsen CC; Department of Medicine, The University of Chicago, Chicago, IL 60637 USA., Karaviti LP; Department of Pediatric, Texas Children's Hospital, Houston, TX 77030 USA., Seghers V; Department of Radiology, Texas Children's Hospital, Houston, TX 77030 USA., Weiss RE; Department of Medicine, University of Miami, Miami, FL 33101 USA., Refetoff S; Department of Medicine, The University of Chicago, Chicago, IL 60637 USA ; Department of Pediatrics, The University of Chicago, Chicago, IL 60637 USA ; Committee on Genetics, The University of Chicago, Chicago, IL 60637 USA., Dumitrescu AM; Department of Medicine, The University of Chicago, Chicago, IL 60637 USA.
Source: International journal of pediatric endocrinology [Int J Pediatr Endocrinol] 2014; Vol. 2014 (1), pp. 23. Date of Electronic Publication: 2014 Nov 17.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101516111 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1687-9848 (Print) Linking ISSN: 16879848 NLM ISO Abbreviation: Int J Pediatr Endocrinol Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature.
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  Data: <searchLink fieldCode="AU" term="%22Larsen+CC%22">Larsen CC</searchLink>; Department of Medicine, The University of Chicago, Chicago, IL 60637 USA.<br /><searchLink fieldCode="AU" term="%22Karaviti+LP%22">Karaviti LP</searchLink>; Department of Pediatric, Texas Children's Hospital, Houston, TX 77030 USA.<br /><searchLink fieldCode="AU" term="%22Seghers+V%22">Seghers V</searchLink>; Department of Radiology, Texas Children's Hospital, Houston, TX 77030 USA.<br /><searchLink fieldCode="AU" term="%22Weiss+RE%22">Weiss RE</searchLink>; Department of Medicine, University of Miami, Miami, FL 33101 USA.<br /><searchLink fieldCode="AU" term="%22Refetoff+S%22">Refetoff S</searchLink>; Department of Medicine, The University of Chicago, Chicago, IL 60637 USA ; Department of Pediatrics, The University of Chicago, Chicago, IL 60637 USA ; Committee on Genetics, The University of Chicago, Chicago, IL 60637 USA.<br /><searchLink fieldCode="AU" term="%22Dumitrescu+AM%22">Dumitrescu AM</searchLink>; Department of Medicine, The University of Chicago, Chicago, IL 60637 USA.
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  Data: <searchLink fieldCode="JN" term="%22101516111%22">International journal of pediatric endocrinology</searchLink> [Int J Pediatr Endocrinol] 2014; Vol. 2014 (1), pp. 23. <i>Date of Electronic Publication: </i>2014 Nov 17.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101516111 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>1687-9848 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216879848%22">16879848 </searchLink><i>NLM ISO Abbreviation: </i>Int J Pediatr Endocrinol <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1186/1687-9856-2014-23
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