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Disorders associated with a collodion baby presentation

Disorders associated with a collodion baby presentation
Disorder Genetic basis
ARCI TGM1, ALOXE3, ALOX12B, NIPAL4, ABCA12, CYP4F22
Anhidrotic ectodermal dysplasia EDA, EDAR
Gaucher disease GBA
Keratitis-ichthyosis-deafness GJB2, GJB6
Trichothiodystrophy ERCC2/XPD, ERCC3/XPB, GTF2H5
Sjögren-Larsson syndrome ALDH3A2
Neutral lipid storage disease ABHD5
ARCI: autosomal recessive congenital ichthyosis.
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