Article
Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature.
Journal of medical genetics - 1 Nov 2021
Kang Eungu, Kang Minji, Ju Younghee, Lee Sang-Joon, Lee Yong-Seok, Woo Dong-Cheol, Sung Young Hoon, Baek In-Jeoung, Shim Woo Hyun, Son Woo-Chan, Choi In Hee, Seo Eul-Ju, Yoo Han-Wook, Han Yong-Mahn, Lee Beom Hee
Abstract excerpt
BACKGROUND: ARID2 belongs to the Switch/sucrose non-fermenting complex, in which the genetic defects have been found in patients with dysmorphism, short stature and intellectual disability (ID). As the phenotypes of patients with ARID2 mutations partially overlap with those of RASopathy, this study evaluated the biochemical association between ARID2 and RAS-MAPK pathway. METHODS: The phenotypes of 22 patients...
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