Fig. 1: Clinical and laboratory information of the present patient. | Human Genome Variation

Fig. 1: Clinical and laboratory information of the present patient.

From: A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

Fig. 1

A No distinctive features are noted in infancy. B Distinctive features, including a prominent forehead, prominent supraorbital ridges, and prominent cheeks, are shown at 14 years. These photos were provided by his family with written informed consent. C Results of Sanger sequencing. The patient shows a de novo variant (C>T).

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