%0 Journal Article 
%T Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia
%D 2016
%@ 0914-3505
%U http://hdl.handle.net/10906/81388
%X 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.
%K Ciencias  socio biomédicas
%K Medical sciences
%K Discapacidad
%K Enfermedades genéticas
%K Malformaciones congénitas
%K Hipoplasia
%~ GOEDOC, SUB GOETTINGEN