Familial dysalbuminemic hyperthyroxinemia

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Familial dysalbuminemic hyperthyroxinemia
Classification and external resources
OMIM 103600
DiseasesDB 32942
MeSH D050010

Familial dysalbuminemic hyperthyroxinemia is a type of hyperthyroxinemia associated with mutations in the human serum albumin gene.[1]

The term was introduced in 1982.[2]

References[edit]

  1. ^ Petitpas I, Petersen CE, Ha CE, et al. (May 2003). "Structural basis of albumin–thyroxine interactions and familial dysalbuminemic hyperthyroxinemia". Proc. Natl. Acad. Sci. U.S.A. 100 (11): 6440–5. doi:10.1073/pnas.1137188100. PMC 164465. PMID 12743361. 
  2. ^ Ruiz M, Rajatanavin R, Young RA, et al. (March 1982). "Familial dysalbuminemic hyperthyroxinemia: a syndrome that can be confused with thyrotoxicosis". N. Engl. J. Med. 306 (11): 635–9. doi:10.1056/NEJM198203183061103. PMID 6173750.