Zobrazeno 1 - 10
of 220
pro vyhledávání: '"autosomal recessive congenital ichthyosis"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 5, Pp n/a-n/a (2024)
Abstract Background Ichthyosis is a common keratotic skin disease with high clinical, etiological and genetic heterogeneity. There are four types of non‐syndromic hereditary ichthyoses, among which autosomal recessive congenital ichthyosis (ARCI) i
Externí odkaz:
https://doaj.org/article/d05577da968d4a2fb85ff0763d24f03f
Publikováno v:
罕见病研究, Vol 2, Iss 2, Pp 290-293 (2023)
Autosomal recessive congenital ichthyosis caused by CERS3 mutations is extremely rare in clinical practice. We recently identified a family of autosomal recessive congenital ichthyosis and performed multigene exome sequencing for hereditary skin dise
Externí odkaz:
https://doaj.org/article/0c8dcbc9cd914fdc858f6e4e9eeec7e4
Autor:
Sheila I. Peña-Corona, Stephany Celeste Gutiérrez-Ruiz, Ma de los Dolores Campos Echeverria, Hernán Cortés, Manuel González-Del Carmen, Gerardo Leyva-Gómez
Publikováno v:
Frontiers in Pharmacology, Vol 14 (2023)
Autosomal recessive congenital ichthyoses (ARCI) are a skin pathology due to genetic causes characterized by a variable degree of desquamation, accompanied by erythema. The degree of symptoms is variable, different altered genes are involved, and the
Externí odkaz:
https://doaj.org/article/0e7deb3f83664e4ba39bf8c6f48fddd0
Akademický článek
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Akademický článek
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Publikováno v:
罕见病研究, Vol 1, Iss 3, Pp 329-333 (2022)
Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary cornification disorder presented with abnormal skin scaling. In this paper, we used next-generation sequencing to determine the variants in a Chinese ARCI patient. We used sanger s
Externí odkaz:
https://doaj.org/article/1ee123a99fed4b7eae00092cb336946f
Publikováno v:
Pharmacogenomics and Personalized Medicine, Vol Volume 15, Pp 583-588 (2022)
Jing Zeng, Baihui Shan, Lu Guo, Sha Lv, Fuqiu Li Department of Dermatology, the Second Hospital of Jilin University, Changchun, People’s Republic of ChinaCorrespondence: Fuqiu Li, Department of Dermatology, the Second Hospital of Jilin University,
Externí odkaz:
https://doaj.org/article/1a2f9c320580462790df2fbd87fb933a
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Skin lesions on the feet and foot deformities impair daily activities and decrease quality of life. Although substantial foot deformities occur in many genodermatoses, few reports have been published on this topic. Therefore, we p
Externí odkaz:
https://doaj.org/article/c037f8a6b5324f02aea8b74076aa2ea6
Autor:
Damiano Abeni, Roberta Rotunno, Andrea Diociaiuti, Simona Giancristoforo, Domenico Bonamonte, Carmelo Schepis, Iria Neri, Daniele Castiglia, Giovanna Zambruno, May El Hachem
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Autosomal recessive congenital ichthyoses (ARCI) are a genetically heterogeneous group of rare and chronic disorders characterized by generalized skin scaling and hyperkeratosis, erythroderma, and palmoplantar keratoderma. Additio
Externí odkaz:
https://doaj.org/article/d79a0697e9b94a8baa22205810a3a020
Publikováno v:
Przegląd Dermatologiczny, Vol 108, Iss 1, Pp 38-45 (2021)
Externí odkaz:
https://doaj.org/article/425870ce23574efd8e62abb8abcbc612