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

INTRODUCTION: 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 e...

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Detalles Bibliográficos
Autores principales: Pachajoa, Harry, Ruiz-Botero, Felipe, Isaza, Carolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4086705/
https://www.ncbi.nlm.nih.gov/pubmed/24928221
http://dx.doi.org/10.1186/1752-1947-8-191

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4086705/
https://www.ncbi.nlm.nih.gov/pubmed/24928221
http://dx.doi.org/10.1186/1752-1947-8-191

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