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. |
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| 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 |
| ISSN: | 1687-9848 |
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| DOI: | 10.1186/1687-9856-2014-23 |
