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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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| Autors principals: | , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Endocrine Society
2012
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| Matèries: | |
| 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 |
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