title: A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections.
authors: Department of Cardiovascular Medicine, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
authors: Daishi
authors: D
authors: Fujita
authors: Department of Cardiovascular Medicine, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan. Electronic address: notakeda-tky@umin.ac.jp.
authors: Norifumi
authors: N
authors: Takeda
authors: Department of Cardiovascular Medicine, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan; Department of Translational Research for Healthcare and Clinical Science, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
authors: Hiroyuki
authors: H
authors: Morita
authors: Department of Cardiovascular Medicine, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
authors: Masayoshi
authors: M
authors: Kato
authors: Department of Cardiovascular Medicine, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
authors: Hiroshi
authors: H
authors: Nishimura
authors: Department of Pediatrics, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
authors: Ryo
authors: R
authors: Inuzuka
authors: Department of Orthopedic Surgery, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
authors: Yuki
authors: Y
authors: Taniguchi
authors: Department of Cardiovascular Surgery, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
authors: Kan
authors: K
authors: Nawata
authors: Department of Obstetrics and Gynecology, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan; Department of Obstetrics and Gynecology, Tokyo Metropolitan Bokutoh Hospital, Tokyo, Japan.
authors: Hironobu
authors: H
authors: Hyodo
authors: Division of Cardiovascular Medicine, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke 329-0498, Tochigi, Japan.
authors: Yasushi
authors: Y
authors: Imai
authors: Tokyo Teishin Hospital, 2-14-23 Fujimi, Chiyoda-ku, Tokyo 102-8798, Japan.
authors: Yasunobu
authors: Y
authors: Hirata
authors: Department of Cardiovascular Medicine, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
authors: Issei
authors: I
authors: Komuro
mesh_terms: D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular; D017346:Protein Serine-Threonine Kinases / Q000235:genetics* / Q000378:metabolism; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics* / Q000378:metabolism; D014057:Tomography, X-Ray Computed; D016212:Transforming Growth Factor beta; D020217:Vertebral Artery Dissection / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D055815:Young Adult
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D016212:Transforming Growth Factor beta; D004247:DNA; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II
keywords: Loeys–Dietz syndrome; Pregnancy; Subarachnoid hemorrhage; TGFBR2; Thoracic aortic dissection