1. A novel PORCN mutation in a severe case of Focal Dermal Hypoplasia

A novel PORCN mutation in a severe case of Focal Dermal Hypoplasia

Andres Felipe Ramirez-Botero, MD 1 Sabrina Eichler, PhD 2 Prof. Arndt Rolfs, MD 3, 2 Harry Pachajoa, MD PhD 1
1 Icesi University, Columbia 2 CENTOGENE AG 3 University of Rostock
November 01, 2015

Congenit Anom (Kyoto), 2015 Nov 25; doi: 10.1111/cga.12146

Abstract: Focal dermal hypoplasia is a rare genetic disease characterized by abnormalities of ectodermal and mesodermal derivatives. This is the case of an eight year old female who seeks genetic counseling for multiple malformations, aggressive behavior and intellectual disability. Gene analysis confirmed focal dermal hypoplasia.