Unexpected exome sequencing result: De novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity

Abstract

Unexpected Exome Sequencing Result: De Novo TRPS1 Mutation in an Infant With Infantile Scoliosis, Mild Developmental Delay, and History of Consanguinity Ian Casci, William Accousti, and Yves Lacassie* Department of Genetics, LSU Health Sciences Center, New Orleans, Louisiana Department of Orthopedics, LSU Health Sciences Center and Children’s Hospital, New Orleans, Louisiana Department of Pediatrics, Division of Genetics, LSU Health Sciences Center and Children’s Hospital, New Orleans, Louisiana