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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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
Format: Artigo
Jezik:Inglês
Izdano: Endocrine Society 2012
Teme:
JCEM Online: Advances in Genetics
Online dostop: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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