Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia
Loading...
Date
Authors
Pachajoa Londoño, Harry Mauricio
Thesis Director / Advisor
Journal Title
Journal ISSN
Volume Title
Publisher
Wiley-Blackwel
Documentos PDF
Resumen
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.
Description
Palabras clave
Ciencias socio biomédicasMedical sciencesDiscapacidadEnfermedades genéticasMalformaciones congénitasHipoplasia
ISBN
Citation
Collections
Endorsement
Review
Supplemented By
Referenced By
Creative Commons license
Except where otherwised noted, this item's license is described as Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)