Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.
Leonie FrommherzKatalin KomlosiCharlotte HewelJulia KoppMalin DewenterAndreas David ZimmerOliver BartschMatthias LinkeKristin Technau-HafsiSusanne GerberJudith FischerCristina HasPublished in: Journal of the European Academy of Dermatology and Venereology : JEADV (2022)
Altogether, we show that a type of autosomal dominant acral ichthyosis is most probably caused by an amino acid substitution in the C-terminus of keratin 2.
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