Presentation Information
[P2-08-2]A novel large in-frame deletion flanking exon 54 of the FBN1 gene in a Japanese girl with Marfan syndrome
○Toshihiko Mori1, Shigeto Fuse2, Kazuna Hirai3, Maki Katai3, Hiroko Morisaki4 (1.Department of Pediatrics, NTT Medical Center Sapporo, Sapporo, Hokkaido, Japan, 2.Department of Laboratory, NTT Medical Center Sapporo, Sapporo, Hokkaido, Japan, 3.Department of Ophthalmology, NTT Medical Center Sapporo, Sapporo, Hokkaido, Japan, 4.Department of Clinical Genetics, Sakakibara Heart Institute Medical Examination clinic, Tokyo, Japan)