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Table 4 Clinical features and associated genes in studied ichthyosis patients

From: Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation

Gene

Clinical feature

Phenotype

NIPAL4

Collodion baby, Ectropion, Folds involvement, Palmoplantar hyperkeratosis

CIE, LI

TGM1

Brachydactyly, Collodion baby, Ectropion, Folds involvement, Palmoplantar hyperkeratosis, Ears malformation, Alopecia

CIE, LI

CYP4F22

Collodion baby, Palmoplantar hyperkeratosis

LI

CERS3(ADAM17)

Brachydactyly, Folds involvement, Palmoplantar hyperkeratosis

CIE

  1. CIE congenital ichthyosiform erythoderma; LI lamellar ichthyosis; CIE CIE with ocular defect