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Clinical and endocrine characteristics and genetic analysis of Korean children with McCune–Albright syndrome: a retrospective cohort study

BACKGROUND: McCune–Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few individuals with MAS have been reported in Korea. We describe the various clinica...

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Podrobná bibliografie
Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Cho, Eun-Kyung, Kim, Jinsup, Yang, Aram, Ki, Chang-Seok, Lee, Ji-Eun, Cho, Sung Yoon, Jin, Dong-Kyu
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4977675/
https://ncbi.nlm.nih.gov/pubmed/27506760
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0496-x
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