A case of Meckel syndrome with a pathogenic deep intronic variant and an exonic LINE-1 insertion in CC2D2A.

Kazuyuki Nakamura

Presentation information

General Oral Presentation

[O1] 遺伝子 1

Thu. May 30, 2024 9:40 AM - 10:40 AM Room7 (Bldg.2 3F 232＋233)

Organizer:Tomohiko Nakata(Department of Pediatrics, Nagoya University Hospital),Karin Kojima(Department of Pediatrics, Jichi Medical University)

[O1-3] A case of Meckel syndrome with a pathogenic deep intronic variant and an exonic LINE-1 insertion in CC2D2A.

^○Kazuyuki Nakamura¹, Sachiko Miyamoto², Mitsuko Nakashima², Shinya Kobayashi¹, Akio Ishikawa¹, Tetsuo Mitsui¹, Hirotomo Saitsu², Mitsuhiro Kato³ (1.Department of Pediatrics, Yamagata University, Yamagata, Japan, 2.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 3.Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan)

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