%0 Journal Article
%T Clinical and endocrine characteristics and genetic analysis of Korean children with McCune¨CAlbright syndrome: a retrospective cohort study
%A Aram Yang
%A Chang-Seok Ki
%A Dong-Kyu Jin
%A Eun-Kyung Cho
%A Ji-Eun Lee
%A Jinsup Kim
%A Sung Yoon Cho
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0496-x
%X McCune¨CAlbright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), caf¨¦ 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 clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea
%K McCune¨CAlbright syndrome
%K GNAS
%K Peripheral precocious puberty
%K Fibrous dysplasia
%K Pituitary adenoma
%K Growth hormone excess
%K MEMO-PCR
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977675/