Fig. 1
![Fig. 1](http://media.springernature.com/full/springer-static/image/art%3A10.1186%2Fs12920-018-0421-3/MediaObjects/12920_2018_421_Fig1_HTML.png)
A patient with a de novo heterozygous de novo PUF60 variant. a Sanger sequencing confirmation for c.1357C > T PUF60 variant in proband but absence in both parents. b A facial profile to patient. Noted for short neck, thin upper lip, long philtrum, micrognathia and wide nasal bridge, and narrow almond-shaped palpebral fissures