Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: A case report

Kiyoshi Uike, Yuki Matsushita, Yasunari Sakai, Osamu Togao, Michinobu Nagao, Yoshito Ishizaki, Hazumu Nagata, Kenichiro Yamamura, Hiroyuki Torisu, Toshiro Hara

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