Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein

CONTEXT: Microcephalic primordial dwarfism (MPD) is a rare, severe form of human growth failure in which growth restriction is evident in utero and continues into postnatal life. Single causative gene defects have been identified in a number of patients with MPD, and all involve genes fundamental to...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Dauber, Andrew, LaFranchi, Stephen H., Maliga, Zoltan, Lui, Julian C., Moon, Jennifer E., McDeed, Cailin, Henke, Katrin, Zonana, Jonathan, Kingman, Garrett A., Pers, Tune H., Baron, Jeffrey, Rosenfeld, Ron G., Hirschhorn, Joel N., Harris, Matthew P., Hwa, Vivian
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2012
Matèries:
JCEM Online: Advances in Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3485598/
https://ncbi.nlm.nih.gov/pubmed/22933543
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-2150
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars