Mutations detected in patients with unknown disease causing variant.
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A clinical phenotype was reported as follows: EGS538 and 550 have symptoms and signs compatible with STAT3 mutations, including increased IgE-levels and S. aureus infections. Prior to the analysis EGS539 and 540 had 6% and a(Potentially) causal mutations are listed in bold.bPatient diagnosed with asplenia. Candidate genes not included in this assay.cNo potential causing variants were found for these individuals in the NGS datadManuscript in preparation.Mutations detected in patients with unknown disease causing variant.
创建时间：
2015-12-02
