Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature

J Dermatol Sci. 2016 Jan;81(1):63-6. doi: 10.1016/j.jdermsci.2015.10.012. Epub 2015 Nov 2.

¹ Division of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, S. Orsola-Malpighi Hospital, Bologna, Italy.
² Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna; Policlinico Sant'Orsola-Malpighi, Bologna, Italy.
³ Division of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, S. Orsola-Malpighi Hospital, Bologna, Italy. Electronic address: [email protected].

No abstract available

Keywords: ARCI11; Autosomal recessive congenital ichthyosis; Follicular atrophoderma and hypotrichosis.

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