title: Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia.
abstract: Focal dermal hypoplasia is a rare genetic disease characterized 8-year-old female who sought genetic counseling for multiple malformations, aggressive behavior and intellectual disability. Gene analysis confirmed focal dermal hypoplasia.
authors.affiliation: Department of Basic Sciences, Icesi University, Cali, Colombia.
authors.forename: Andres Felipe
authors.initials: AF
authors.lastname: Ramirez-Botero
authors.affiliation: Centogene AG, Rostock, Germany.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Eichler
authors.affiliation: Centogene AG, Rostock, Germany.
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.affiliation: Department of Basic Sciences, Icesi University, Cali, Colombia.
authors.forename: Harry
authors.initials: H
authors.lastname: Pachajoa
keywords: PORCN gene; focal dermal hypoplasia; intellectual disability