Fig. 1: Results of this study. | Human Genome Variation

Fig. 1: Results of this study.

From: Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

Fig. 1

A A portrait of the reported patient taken at 1 year of age and provided by her parents with written informed consent. The portrait shows the patient’s arched eyebrows, left internal strabismus, flat nasal bridge, anteverted nares, long philtrum, and small and tented mouth. B Sanger sequencing shows a heterozygous variant, c.1516C>T [p.Arg506*], only in the patient and not in her parents, indicating de novo occurrence.

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