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. 2020 Jul 31;10(3):236–238. doi: 10.1055/s-0040-1713159

Fig. 1.

Fig. 1

( A ) Distinctive facial features: short and sloping forehead, laterally prominent eyebrows, large nostrils, and an open mouth appearance with drooling. ( B ) A schematic illustration of the main functional domains of DHDDS protein: catalytic residue (CR)-farnesyl pyrophosphate (FPP) binding site; FPP cleft; isopentenyl pyrophosphate (IPP) binding site. All other previously reported DHDDS mutations are indicated in black, while our mutated de novo missense version of DHDDS protein is highlighted in red. ( C ) Sanger sequencing showing the proband carrying the de novo missense variant in DHDDS (c.G632A; p.Arg211Gln).