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Analysis of the facial Gestalt with Gestaltmatcher. (A) tSNE analysis to validate whether PHIP individuals cluster based on the type of mutations (missense, loss-of-function, splice site). (B) tSNE analysis of patients with PHIP alteration, CUL4B alteration or PWS, which shows a clear phenotypic separation of the three conditions. (C) Average faces for healthy controls and each of the differential clinical diagnoses for CHUJANS, namely CUL4B-related disorders and PWS.
