Results 51 to 60 of about 4,685 (212)
Síndrome de Kindler: enfermedad rara [PDF]
, 2014 El síndrome de Kindler es una genodermatosis rara, caracterizada clínicamente por fragilidad cutánea, poiquilodermia y fotosensibilidad. Es una enfermedad de herencia autosómica recesiva, producida por mutaciones en el gen FERMT1.
Maglio, Silvana +6 more
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Late-Onset Multiple Self-Healing Squamous Epithelioma Ferguson-Smith Recurrence Induced by Radiotherapy. [PDF]
, 2016 We report the case of a woman in her 60s with confirmed multiple self-healing squamous epitheliomas (MSSE) Ferguson-Smith. After recurrences following surgery and radiotherapy, the patient was successfully treated with minimal surgical intervention ...
Feldmeyer, L. +4 more
core +3 more sources
Incontientia Pigmenti: a genodermatosis beginning in childhood
Revista Científica Estudiantil 2 de Diciembre, 2021 Introduction: incontinentia pigmenti is a dominant inheritance genodermatosis, with an approximate incidence of 1 per 50 000 live births, with 27.6 new cases per year.
Roine Alberto Pena Olivera +2 more
doaj
Developmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki +6 more
wiley +1 more source
Örökletes és immunológiai bőrgyógyászati kórképek epidemiológiai és molekuláris genetikai vizsgálata = Epidemiological and molecular genetic study of the inherited and immunodermatological diseases [PDF]
, 2009 Örökletes bőrgyógyászati megbetegedések: A genetikai hátterű bőrgyógyászati betegségek között kiemelt jelentőségű az epidermolysis bullosa (EB) csoport.
Medvecz, Márta
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Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes
Biomedicines, 2022 Revertant mosaicism (RM) is the intriguing phenomenon in which nature itself has successfully done what medical science is so eagerly trying to achieve: correcting the effect of disease-causing germline variants and thereby reversing the disease ...
Peter C. van den Akker +2 more
doaj +1 more source
Síndrome de Cowden: a propósito de una familia afectada [PDF]
, 2006 El síndrome de Cowden es una rara genodermatosis caracterizada por múltiples hamartomas ubicados en tejidos y órganos diversos derivados de las tres hojas embrionarias. Las manifestaciones clínicas de la enfermedad de Cowden se explican especialmente por
Blanco, Verónica +1 more
core +1 more source
Progress in the use of adeno-associated viral vectors for gene therapy [PDF]
, 2004 The development of safe and efficient gene transfer vectors is crucial for the success of gene therapy trials. A viral vector system promising to meet these requirements is based on the apathogenic adeno-associated virus (AAV-2), a member of the ...
Braun-Falco, M., Buning, H., Hallek, M.
core +1 more source
Dowling-Degos Disease: Case Report and Review of the Literature [PDF]
, 2010 Dowling-Degos disease (DDD) is an unusual pigmentary disorder usually caused by mutations in keratin 5. A 44-year-old woman in good general health presented due to the recent appearance of numerous pigmented macules on her axillary and anogenital skin. A
Baran, Wojciech +3 more
core +1 more source
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Oliver Brandt +2 more
wiley +1 more source