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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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Endocrine Society 2012
Onderwerpen:
JCEM Online: Advances in Genetics
Online toegang: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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