Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt...

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Veröffentlicht in:	PLoS genetics Jg. 13; H. 3; S. e1006683
Hauptverfasser:	Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A., van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B., Destree, Anne, Smigiel, Robert, Lambie, Lindsday A., Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G., Mihci, Ercan, Moreira, Lilia M. A., Borges Ferreira, Viviane, Horovitz, Dafne D. G., da Rocha, Katia M., Jezela-Stanek, Aleksandra, Brooks, Alice S., Reutter, Heiko, Cohen, Julie S., Fatemi, Ali, Smitka, Martin, Grebe, Theresa A., Di Donato, Nataliya, Deshpande, Charu, Vandersteen, Anthony, Marques Lourenço, Charles, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A., De Vries, Bert B. A., Schinzel, Albert, Fisher, Simon E., Hoischen, Alexander, van Bon, Bregje W.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States Public Library of Science 27.03.2017 Public Library of Science (PLoS)
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - metabolism Abnormalities, Multiple - pathology Biology and Life Sciences Blood cancer Blotting, Western Cancer Carrier Proteins - genetics Carrier Proteins - metabolism Cell Line Cell proliferation Cell Proliferation - genetics Cell Transformation, Neoplastic - genetics Child Child, Preschool Children & youth Craniofacial Abnormalities - genetics Craniofacial Abnormalities - metabolism Craniofacial Abnormalities - pathology Developmental disabilities Disruption Female Gene Expression Profiling Gene mutation Genetic aspects Genetic Association Studies Genetic Predisposition to Disease - genetics Genetics Genomes Genomics Germ-Line Mutation Hand Deformities, Congenital - genetics Hand Deformities, Congenital - metabolism Hand Deformities, Congenital - pathology Health sciences HEK293 Cells Hematologic Neoplasms - genetics Hematologic Neoplasms - metabolism Hematologic Neoplasms - pathology Hospitals Humans Incidence Infant Infant, Newborn Intellectual Disability - genetics Intellectual Disability - metabolism Intellectual Disability - pathology Laboratories Language Leukemia Life sciences Male Malignancy Medicine Medicine and Health Sciences Mutation Mutation hot spots Nails, Malformed - genetics Nails, Malformed - metabolism Nails, Malformed - pathology Neurosciences Nuclear Proteins - genetics Nuclear Proteins - metabolism Pathology Pediatrics Phenotype Research and Analysis Methods Schinzel-Giedion syndrome Netherlands Turkey United States > US Maryland Baltimore Maryland
ISSN:	1553-7404, 1553-7390, 1553-7404
Online-Zugang:	Volltext
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