Skip to main content

Table 7 List of sequence variations detected in patients with keratinopathic ichthyosis and literature references

From: Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis

Keratinopathic ichthyosis

Target gene

Sample ID

Variation

Note and references

KRT1

ID-60

c.1657_1677del, p.S557_G563del

[19]

KRT10

ID-61

c.466C > T, p.R156C

[20]

KRT10

ID-62

c.467G > A, p.R156H

[21]

KRT2

ID-63

c.561_563delCAA, p.N187del

Npd

KRT2

ID-64

neg

 
  1. npd not previously described, neg negative, del deleted
Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172