A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.

Microcephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Indiv...

Full description

Autores:

Pachajoa Londoño, Harry Mauricio
Ruiz Botero, Felipe
Isaza, Carolina

Tipo de recurso:

Article of investigation

Fecha de publicación:

2014

Institución:

Universidad ICESI

Repositorio:

Repositorio ICESI

Idioma:

eng

OAI Identifier:

oai:repository.icesi.edu.co:10906/78346

Acceso en línea:

http://www.scopus.com/inward/record.url?eid=2-s2.0-84902057692&partnerID=tZOtx3y1
http://jmedicalcasereports.biomedcentral.com/articles/10.1186/1752-1947-8-191
http://hdl.handle.net/10906/78346
http://dx.doi.org/10.1186/1752-1947-8-191

Palabra clave:

Microcephalic osteodysplastic primordial dwarfism
Birth defects
Primordial dwarfism
Biomedical sciences
Ciencias socio biomédicas

Rights

openAccess

License

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