Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia

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.

Autores:

Pachajoa Londoño, Harry Mauricio
Ruiz Botero, Felipe

Tipo de recurso:

Article of investigation

Fecha de publicación:

2016

Institución:

Universidad ICESI

Repositorio:

Repositorio ICESI

Idioma:

eng

OAI Identifier:

oai:repository.icesi.edu.co:10906/81388

Acceso en línea:

http://nebulosa.icesi.edu.co:2143/full_record.do?product=WOS&search_mode=GeneralSearch&qid=3&SID=2CbwvazXqwgCYDqXqeM&page=1&doc=1
http://hdl.handle.net/10906/81388
http://dx.doi.org/10.1111/cga.12146

Palabra clave:

Ciencias socio biomédicas
Medical sciences
Discapacidad
Enfermedades genéticas
Malformaciones congénitas
Hipoplasia

Rights

openAccess

License

https://creativecommons.org/licenses/by-nc-nd/4.0/