title: Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature.
authors.affiliation: Division of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, S. Orsola-Malpighi Hospital, Bologna, Italy.
authors.forename: Iria
authors.initials: I
authors.lastname: Neri
authors.affiliation: Division of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, S. Orsola-Malpighi Hospital, Bologna, Italy.
authors.forename: Annalucia
authors.initials: A
authors.lastname: Virdi
authors.affiliation: Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna; Policlinico Sant'Orsola-Malpighi, Bologna, Italy.
authors.forename: Giada
authors.initials: G
authors.lastname: Tortora
authors.affiliation: Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna; Policlinico Sant'Orsola-Malpighi, Bologna, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Baldassari
authors.affiliation: Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna; Policlinico Sant'Orsola-Malpighi, Bologna, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Seri
authors.affiliation: Division of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, S. Orsola-Malpighi Hospital, Bologna, Italy. Electronic address: alvirdi@libero.it.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Patrizi
mesh_terms: D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D018859:Hair Follicle / Q000002:abnormalities*; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics* / Q000473:pathology; D007057:Ichthyosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D012697:Serine Endopeptidases / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
chemical_list: D012697:Serine Endopeptidases; C485596:ST14 protein, human
keywords: ARCI11; Autosomal recessive congenital ichthyosis; Follicular atrophoderma and hypotrichosis