[P2-06] Poster Session 2-06　Clinical Genetics 2

[P2-06-8] Novel Compound Heterozygous Splice Site Variants in COL11A1 Cause Autosomal Recessive Stickler Syndrome

Hironao Shirai^1,2, Sachiko Ohori^1,3, Kosuke Murata⁴, Keiko Takahashi¹, Naomi Araki¹, Fumio Takada^1,2,5 (1.Division of Genetics, Kitasato University Hospital, Kanagawa, Japan, 2.Department of Pediatrics, Kitasato University School of Medicine, Kanagawa, Japan, 3.Department of Clinical Genetics, St. Marianna University Hospital, Kanagawa, Japan, 4.Department of Orthopaedic Surgery, Kitasato University School of Medicine, Kanagawa, Japan, 5.Department of Medical Genetics and Genomics, Kitasato University Graduate School of Medical Sciences, Kanagawa, Japan)

Password required to view

Log in

or