Familial dysalbuminemic hyperthyroxinemia

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Familial dysalbuminemic hyperthyroxinemia
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Familial Dysalbuminemic Hyperthyroxinemia caused by a Point Albumin Gene Mutation-Genomic DNA sequence of exon 7 of the albumin gene in the affected individual and a normal subject
SpecialtyEndocrinology

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

  1. Petitpas I, Petersen CE, Ha CE, et al. (May 2003). "Structural basis of albumin–thyroxine interactions and familial dysalbuminemic hyperthyroxinemia". Proceedings of the National Academy of Sciences, USA. 100 (11): 6440–5. Bibcode:2003PNAS..100.6440P. 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". New England Journal of Medicine. 306 (11): 635–9. doi:10.1056/NEJM198203183061103. PMID 6173750.

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Classification