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Xeroderma Pigmentosum Variant Type, a Genodermatosis With Long‐Term Survival
JEADV Clinical PracticeJEADV Clinical Practice, Volume 5, Issue 1, Page 286-287, March 2026.
Ana Gabriela Perez Romero +1 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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Plantar pain and thickened nails: a genodermatosis
Archives of Disease in Childhood, 2019A 7-year-old boy, of non-consanguineous parentage and developing normally, presented with painful lesions on the soles from the time he learnt to walk, even with proper footwear. There was no relevant family history. Cutaneous examination revealed focal, tender hyperkeratotic plaques on the pressure-bearing areas of the soles (figure 1).
Dibyendu Bikash Bhanja +4 more
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Delayed diagnosis of a scaling genodermatosis
BMJ Case Reports, 2023Clare Harnett +2 more
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Phacomatosis spilosebacea: A new name for a distinctive binary genodermatosis
Journal of the American Academy of Dermatology, 2023Daniele Torchia, Rudolf Happle
exaly