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.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1111%2Fcga.12146

Source: Congenital Anomalies - April 23, 2016 Category: Genetics & Stem Cells Authors: Andres Felipe Ramirez‐Botero, Sabrina Eichler, Arndt Rolfs, Harry Pachajoa Tags: Case Report Source Type: research

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