Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood. Here we have used next-generation sequencing approaches to identify de novo heterozygous mutations in sterile α motif domain–co...

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Detalles Bibliográficos
Autores principales: Buonocore, Federica, Kühnen, Peter, Suntharalingham, Jenifer P., Del Valle, Ignacio, Digweed, Martin, Stachelscheid, Harald, Khajavi, Noushafarin, Didi, Mohammed, Brady, Angela F., Blankenstein, Oliver, Procter, Annie M., Dimitri, Paul, Wales, Jerry K.H., Ghirri, Paolo, Knöbl, Dieter, Strahm, Brigitte, Erlacher, Miriam, Wlodarski, Marcin W., Chen, Wei, Kokai, George K., Anderson, Glenn, Morrogh, Deborah, Moulding, Dale A., McKee, Shane A., Niemeyer, Charlotte M., Grüters, Annette, Achermann, John C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409795/
https://www.ncbi.nlm.nih.gov/pubmed/28346228
http://dx.doi.org/10.1172/JCI91913

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