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...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2012
Assuntos:
JCEM Online: Advances in Genetics
Acesso em linha: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
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