SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction
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DOI: 10.1111/cge.14140
Abstract: Prompt diagnosis of complex phenotypes is a challenging task in clinical genetics. Whole exome sequencing has proved to be effective in solving such conditions. Here, we report on an unpredictable presentation of Werner Syndrome (WRNS)… read more here.
Keywords: interaction; likely resulting; negative genetic; resulting negative ... See more keywords