Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.

Autor: Sleiman PMA; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., March M; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Nguyen K; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Tian L; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Pellegrino R; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Hou C; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Dridi W; Departments of Pediatrics, Pediatric Oncology, Pathology and Laboratory Medicine and Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia., Sager M; Departments of Pediatrics, Pediatric Oncology, Pathology and Laboratory Medicine and Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia., Housawi YH; Departments of Pediatrics, Pediatric Oncology, Pathology and Laboratory Medicine and Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia., Hakonarson H; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Publikováno v: Human mutation [Hum Mutat] 2017 May; Vol. 38 (5), pp. 507-510. Date of Electronic Publication: 2017 Mar 10.