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. Author manuscript; available in PMC: 2018 May 1.
Published in final edited form as: Am J Med Genet A. 2017 Apr 3;173(5):1309–1318. doi: 10.1002/ajmg.a.38178

Figure 2.

Figure 2

Clinical features of patient 5 and chromatogram of HRAS sequencing. A- Facial features at age 3 years 11 months, note high forehead and short blond hair, B- Hyperkeratosis on her knees, C-hyperkeratosis on her foot, D- scalp hair with a majority of short blond hairs and very few long brown hairs, E- scalp hair over her occiput showing the majority of blond hair with a patch of darker, longer and typical appearing hair, as well as streaky skin hypopigmentation compared to the relatively hyperpigmented surrounding skin of the neck. F- chromatogram of HRAS sequencing of the probands cheek swab derived DNA (labeled buccal) showing the more prominent wild type and the lesser mutant allele (arrow); the chromatogram for hair root cell derived DNA (labeled blond and brown, respectively) showing 50% mutant allele (blond hair, arrow) or only wild type allele (brown hair, arrow), respectively.