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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Endocrine Society 2012
Θέματα:
JCEM Online: Advances in Genetics
Διαθέσιμο Online: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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