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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Figure 3

Overview of recurrent C16orf57 mutations. A) Schematic representation of the C16orf57 gene with all sequence alterations so far identified. B) World map of six recurrent C16orf57 mutations with geographical distribution. Each bullet represents one tested PN patient. A specific colour is assigned to every mutant allele. Bicolour bullets highlight compound heterozygous patients.

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