A Novel Frameshift <i>CHD4</i> Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1).

Indeed, the PhenSSC calculated against the revised clinical features reference list was 2.33, and near to statistical significance ( p = 0.0587; MaxSSc 3.02; MaxDiseaseSSc 4.2) ( Table 1 and Table S6 ).

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