Clinical and molecular characterisation of two siblings with fibrodysplasia ossificans progressiva, from the Colombian Pacific coast (South America)

Fibrodysplasia ossificans progressiva (FOP, MIM 135 100) is an uncommon genetic disease with a dominant autosomal germline transmission pattern; however, most cases are products of spontaneous individual mutations. It is a disabling condition that affects connective tissue, and it is distinguished b...

Full description

Autores:

Pachajoa Londoño, Harry Mauricio
Botero Ramírez, Andrés Felipe

Tipo de recurso:

Article of investigation

Fecha de publicación:

2015

Institución:

Universidad ICESI

Repositorio:

Repositorio ICESI

Idioma:

eng

OAI Identifier:

oai:repository.icesi.edu.co:10906/81682

Acceso en línea:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-84937061065&doi=10.1136%2fbcr-2015-209804&partnerID=40&md5=13b3d1eca2230edab33c6def701f2a94
http://hdl.handle.net/10906/81682
http://dx.doi.org/10.1136/bcr-2015-209804

Palabra clave:

Medical sciences
Gene mutation
Heterotopic ossification
Ciencias socio biomédicas
Malformaciones congénitas
Enfermedades genéticas
Fibrodisplasia osea progresiva

Rights

License

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