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An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease
Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, also called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). Loss-of-function mutations in CDKN1C have been previously described in the congenital overg...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2012
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580416/ https://www.ncbi.nlm.nih.gov/pubmed/22839767 http://dx.doi.org/10.1186/gm361 |