Results 61 to 70 of about 4,843 (250)
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
Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease [PDF]
, 2020 A distinct Darier phenotype presenting with confetti-like hypopigmented macules was first described in 1965. Designated as "guttate leukoderma," this skin finding is a rarely-reported presentation of Darier disease.
Grossman, Shoshana K +4 more
core
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
Dupilumab in the treatment of genodermatosis: A systematic review [PDF]
, 2023 Po‐Chien Wu +5 more
openalex +1 more source
Skin Necrosis in Children: Genodermatosis [PDF]
Has, Cristina, Schwieger-Briel, Agnes
openaire +3 more sources
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
Frontiers in Genetics, 2021 Epidermolysis bullosa simplex (EBS) is a blistering dermatosis that is mostly caused by dominant mutations in KRT5 and KRT14. In this study, we investigated one patient with localized recessive EBS caused by novel homozygous c.1474T > C mutations in ...
Fuying Chen +14 more
doaj +1 more source
Two male patients with incontinentia pigmenti [PDF]
, 2010 Background. Incontinentia pigmenti (IP) is a rare, complex, X-linked genodermatosis in which skin changes are combined with defects of other organs. It appears almost exclusively in females and is usually lethal in men.
Medenica Ljiljana +5 more
core +1 more source
Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease [PDF]
, 2014 BACKGROUND: Reticulate pigmentary disorders include the rare autosomal dominant Galli–Galli disease (GGD) and Dowling–Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical ...
Kokkonen, E. W. J. +6 more
core +2 more sources
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Michael Wolfgang Höner +2 more
wiley +1 more source