Fig. 1

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