PMC4648218_01
a) Pedigree of the family; (
b), (
c) and (
d), (
e) correspond to the ventral and dorsal views of siblings II:1, and II:2 respectively and shows hyperpigmented fish-like scales all over the body including face and flexures, ectropion, loss of lateral half of eyebrows and hair along scalp margins. Panel (
f) shows the chromatogram from capillary sequencing for the parents and siblings, while panel (
g) shows the domain organization of the protein and the location of the p.Gly218Ser variation with respect to the protein domains.
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PMC4648218_01_f1000research-4-7283-g0000.jpg
f1
Two, 8 and 6-year-old, siblings born out of a non-consanguineous marriage ( Figure 1a) presented with hyperpigmented fish-like scales all over the body including face and flexures ectropion, loss of lateral half of eyebrows and alopecia along the scalp margins ( Figure 1b-1e). Analysis revealed the variant was heterozygous in parents, while homozygous in both affected siblings ( Figure 1f).