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Abordaje de las genodermatosis desde la medicina de precisión: reporte de casos
Iván Darío Zúñiga-Espitia +2 more
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X-linked ichthyosis: An oculocutaneous genodermatosis
Journal of the American Academy of Dermatology, 2010X-linked ichthyosis (XLI) is an X-linked recessive disorder of cutaneous keratinization with possible extracutaneous manifestations. It was first described as a distinct type of ichthyosis in 1965. XLI is caused by a deficiency in steroid sulfatase activity, which results in abnormal desquamation and a retention hyperkeratosis.
Neil F, Fernandes +2 more
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Kindler syndrome: a focal adhesion genodermatosis
British Journal of Dermatology, 2009Kindler syndrome (OMIM 173650) is an autosomal recessive genodermatosis characterized by trauma-induced blistering, poikiloderma, skin atrophy, mucosal inflammation and varying degrees of photosensitivity. Although Kindler syndrome is classified as a subtype of epidermolysis bullosa, it has distinct clinicopathological and molecular abnormalities.
Lai-Cheong, J. E. +8 more
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Human Leukocyte Antigen in Genodermatosis
International Journal of Dermatology, 1984ABSTRACT: Tissue typing performed on the lymphocytes of 41 Patients, including: 23 patients with ichthyosis (15 of autosomal dominant and 8 of the x‐linded variety; 8 patients with tuberous sclerosis (epiloia); and 10 patients with acroder‐matitis enteropathica (AEP).
M, Amer, N, Afifi, I, Iskander, N, Diab
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Classic Dowling Degos disease: a rare genodermatosis
Italian Journal of Dermatology and Venereology, 2019N ...
Piccolo, Vincenzo +5 more
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A current and online genodermatosis database
British Journal of Dermatology, 2007Clinical dermatologists have great difficulty keeping abreast of research in genetic skin disease. This is because there is too much information, in too many places, and in an unfamiliar language. In this review we have simplified and tabulated our current knowledge of the genodermatoses. We hope this 'at a glance' online guide will help dermatologists
Leech SN, Moss C
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Genodermatosis: Inherited Skin Diseases
2021Genodermatoses are inherited, genetic skin conditions which can be classified into these three categories: chromosomal defect, a single gene defect or polygenetic. They may run in families (inherited skin disorders) or may occur as a result of a new mutation.
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Diagnostica molecolare delle genodermatosi
2011E passato poco piu di un ventennio dai primi approcci non clinici per la diagnosi delle malattie genetiche cutanee: in questo spazio di tempo la comunita scientifica internazionale ha coperto una distanza cosmica.
Gianluca Tadini +3 more
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