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/
| Summary: | 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. |
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