Hypothyroidism and Levothyroxine-Responsive Liver Dysfunction in a Patient with Ring Chromosome 18 Syndrome

BACKGROUND: Ring chromosome 18 [r(18)] is a rare constitutional chromosomal aberration syndrome, characterized by dysmorphic face, hypoactivity, short stature, and delayed development. Autoimmune thyroiditis and immunoglobulin (Ig) A deficiency are occasionally associated with chromosome-18 deletion...

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Bibliografiske detaljer
Main Authors: Ohkubo, Kazuhiro, Ihara, Kenji, Ohga, Shouichi, Ishimura, Masataka, Hara, Toshiro
Format: Artigo
Sprog:Inglês
Udgivet: Mary Ann Liebert, Inc. 2012
Fag:
Patients with Remarkable Features or Rare Disorders
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3462387/
https://ncbi.nlm.nih.gov/pubmed/22947348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2011.0521
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