A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.

Autor: Higuchi, Yousuke p0b980ia@okayama-u.ac.jp, Hasegawa, Kosei1 haseyan@md.okayama-u.ac.jp, Yamashita, Miho yamashita@m.ndsu.ac.jp, Tanaka, Hiroyuki2 hrtanaka@saiseidr.jp, Tsukahara, Hirokazu3 tsukah-h@cc.okayama-u.ac.jp
Zdroj: Journal of Medical Case Reports. 8/26/2017, Vol. 11 Issue 1, p1-6. 6p.
Databáze: Academic Search Ultimate