Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
Sotos syndrome is characterized by prenatal and postnatal overgrowth, characteristic craniofacial features and mental retardation. Haploinsufficiency of NSD1 causes Sotos syndrome. Recently, two microdeletions encompassing Nuclear Factor I-X (NFIX) and a nonsense mutation in NFIX have been found in three individuals with Sotos-like overgrowth featu...
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Full title
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
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TN_cdi_proquest_miscellaneous_948912223
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_948912223
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2012.7
