P618: Prenatal detection of a novel pathogenic missense variant in COL11A1 leads to a familial diagnosis of Stickler syndrome type II

• Timothy O'Brien,
• Amiee Potter,
• Sarah McCabe,
• Arpita Kulkarni,
• Sue Richards,
• Stephen Moore

Affiliations

Timothy O'Brien

Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, OR

Amiee Potter

Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, OR

Sarah McCabe

Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, OR

Arpita Kulkarni

Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, OR

Sue Richards

Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, OR

Stephen Moore

Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, OR