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Figure 2 | BMC Medical Genetics

Figure 2

From: Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

Figure 2

a) NC1’s retina showing severe hypopigmentation with absent macular differentiation; b, c) NC1’s right arm and left leg showing that she has a prominent superficial venous pattern of the extremities; d, e) NC1 at age 38 years . She has white hair with a yellowish hue, short narrow palpebral fissures, midface hypoplasia, full lips and prognathism. Note the visible vein in her left temporal area; f) NC2’s iris showing partial iris transillumination g); NC2’s retina showing reduced retinal pigmentation; h) NC2 at age 8 years; i) NC1 at age 10 years.

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BMC Medical Genetics

ISSN: 1471-2350

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