[P1-03] Pediatric Genetics 1

[P1-03-01] A case of atypical Rubinstein-Taybi syndrome associated with CREBBP mosaic deletion and EP300 variant.

Hidenobu Kaneyasu¹, Fumitaka Kouno¹, Yuji Ohnishi¹, Naoko Okayama², Yutaka Suehiro^2,3, Shunji Hasegawa¹ (1. Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan, 2. Division of Medical Genetics, Yamaguchi University Hospital, Yamaguchi, Japan, 3. Department of Oncology and Laboratory Medicine, Yamaguchi University Graduate School of Medicine, Ube, Japan)

Password required to view

Log in

or