TY  - JOUR 
TI  - Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia
PB  - Wiley-Blackwel
PY  - 2016
issn 0914-3505
AB  - 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.
KW  - Ciencias  socio biomédicas
KW  - Medical sciences
KW  - Discapacidad
KW  - Enfermedades genéticas
KW  - Malformaciones congénitas
KW  - Hipoplasia
UR  - http://hdl.handle.net/10906/81388
ER  -