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International Journal of Dermatology, ISSN 0011-9059, 10/2019, Volume 58, Issue 10, pp. e190 - e193
Journal Article
Journal of Basic and Applied Genetics, ISSN 1666-0390, 01/2017, Volume 28, p. 25
En la presente ponencia se realiza la descripción de la evolución histórica de los Servicios de Genética en el Sistema Provincial de Salud (SIPROSA) de la... 
Genodermatosis | Fetuses
Journal Article
Dermatologic Therapy, ISSN 1396-0296, 07/2019, Volume 32, Issue 4, pp. e12994 - n/a
Journal Article
Dermatology Online Journal, ISSN 1087-2108, 2018, Volume 24, Issue 2
The term, autosomal recessive congenital ichthyosis (ARCI), describes a group of rare genetic skin diseases of cornification involving hyperkeratotic scaling... 
Genodermatosis | Collodion | ABCA12 | Hyperkeratosis | Ichthyosis
Journal Article
Journal of Krishna Institute of Medical Sciences University, ISSN 2231-4261, 07/2019, Volume 8, Issue 3, pp. 121 - 124
Lamellar Ichthyosis is a rare genodermatotic condition, which occurs due to the mutation in the transglutaminase-1gene. It is a rare disease with a global... 
Genodermatosis | Fish Scale | Lamellar Ichthyosis
Journal Article
대한피부과학회지, ISSN 0494-4739, 2017, Volume 55, Issue 10, p. 703
Pachydermoperiostosis (PDP) is a male predominant rare genodermatosis. Various clinical presentations includes pachydermia (thickened and folded skin),... 
Genodermatosis | Rhytidectomy | Pachydermoperiostosis
Journal Article
Annales de Dermatologie et de Venereologie, ISSN 0151-9638, 04/2015, Volume 142, Issue 4, pp. 281 - 284
White lentiginosis is characterized by white guttate macules with a typical histological structure: lentiginosis hyperplasia with hypopigmentation.... 
Genodermatosis | Lentiginosis | Hypopigmentation | Leucoderma
Journal Article
Pan African Medical Journal, ISSN 1937-8688, 02/2018, Volume 29
Journal Article
Annales de Dermatologie et de Venereologie, ISSN 0151-9638, 2019
Background: Primary immunodeficiencies are rare and frequently life-threatening conditions in the first year of life. They may present with isolated skin... 
Genodermatosis | IPEX syndrome | Erythroderma | Ichthyosis | Primary immunodeficiency
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 03/2019, Volume 81, Issue 5, pp. 1142 - 1149
Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that affects multiple systems with highly variable phenotypic expressivity. Although... 
Comparative analysis | Children's hospitals
Journal Article
Hautarzt, ISSN 0017-8470, 05/2017, Volume 68, Issue 5, pp. 359 - 363
Journal Article
Experimental Dermatology, ISSN 0906-6705, 01/2017, Volume 26, Issue 1, pp. 22 - 23
Journal Article
Anales de Pediatría, ISSN 1695-4033, 2019
Resumen Introducción La incontinencia pigmenti es una genodermatosis poco frecuente, de herencia ligada al cromosoma X, que afecta a tejidos derivados del... 
Pediatrics
Journal Article
Revista Argentina de Dermatologia, ISSN 0325-2787, 03/2018, Volume 99, Issue 1
Journal Article
Annales de Dermatologie et de Venereologie, ISSN 0151-9638, 2013, Volume 140, Issue 4, pp. 274 - 277
Background. - Multiple familial trichoepithelioma (MFT) is an autosomal dominant disease characterized by the development of numerous skin-coloured papules on... 
CYLD | Genodermatosis | Trichoepithelioma | Familial | Mutation
Journal Article
Dermatology Online Journal, ISSN 1087-2108, 04/2018, Volume 24, Issue 4
Cutaneous signs can be the first manifestation of important medical diagnoses, including inherited cancer syndromes, but access to dermatologic evaluation is... 
Genetic cancer syndrome | Genodermatosis | Teledermatology | Access to care | Cutaneous leiomyomas
Journal Article
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