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. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463

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Fig. 2. — In (A), we show the location of all variants aligned to NM_017635.5 in this patient cohort. Loss-of-function (pLOF) variants are shown on top, and missense variants are shown below. Photos of patients with (B) pLOF variants and (C) missense variants are shown. Some common features are long face, arched eyebrows, wide-spaced eyes with upslanting palpebral fissures, prominent ears, and mild prognathism. The final two photos are of the same patient at two different ages.