Zobrazeno 1 - 10
of 173
pro vyhledávání: '"Mal de Meleda"'
Autor:
Tian Wang, Zhuangli Tang, Tong Xiao, Junru Ren, Shuyao He, Yan Liu, Shengxiang Xiao, Xiaopeng Wang
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)
Abstract Background Mal de Meleda is an autosomal recessive palmoplantar keratoderma, with SLURP1 identified as the pathogenic gene responsible. Although over 20 mutations in SLURP1 have been reported, only the mutation c.256G > A (p.G87R) has been d
Externí odkaz:
https://doaj.org/article/5e13f9f0e22c4b0187dc4d5142d6fed8
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
Externí odkaz:
https://doaj.org/article/86715b31645e4d1495fdbc3317c4b68a
Autor:
Isabella Pospischil, Klaus Enzelsberger, Susanne Gross, Wolfram Hoetzenecker, Tobias W. Fischer
Publikováno v:
Acta Dermato-Venereologica, Vol 102 (2022)
Abstract is missing (Short communication)
Externí odkaz:
https://doaj.org/article/56959bd6e3014c769f1e5f218c836463
Akademický článek
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Publikováno v:
Turkderm Turkish Archives of Dermatology and Venereology, Vol 55, Iss 1, Pp 41-44 (2021)
Mal de Meleda (MDM), also called keratoderma palmoplantaris transgrediens, is a rare autosomal recessive palmoplantar keratoderma with an estimated prevalence of 1: 100,000. Genetic mutations affecting SLURP-1 play a role in MDM. It typically starts
Externí odkaz:
https://doaj.org/article/28233a5faa784ef3a0cd62b41b9258a0
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
BackgroundMal de Meleda (MDM, OMIM 248300) is an autosomal recessive disease characterized by symmetrical and progressive palmoplantar hyperkeratosis soon after birth. Mutations in SLURP1 gene could lead to MDM. Clinically, MDM is easily misdiagnosed
Externí odkaz:
https://doaj.org/article/1f1f9f1a83764f0fbe98f342521648fa
Autor:
Abida Akbar, Claire Prince, Chloe Payne, James Fasham, Wasim Ahmad, Emma L. Baple, Andrew H. Crosby, Gaurav V. Harlalka, Asma Gul
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 genes have been report
Externí odkaz:
https://doaj.org/article/ac52dc582e684f3ca5d6d071c0838356
Akademický článek
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Publikováno v:
PAMJ Clinical Medicine, Vol 2, Iss 145 (2020)
Mal de Meleda (MdM) is an autosomal recessive form of palmoplantar keratoderma, that is characterized by transgradient keratoderma with associated scleroatrophy, nail changes, pseudoainhum around digits and perioral erythema, without a tendency for s
Externí odkaz:
https://doaj.org/article/80687b72ca3d43e48439f7f18ba8393a
Autor:
Khalid M. Al-Husain, Ahmed A. Al-Thubaiti, Farah M. Alzahrani, Iqbal A. Bukhari, Mohammad El-Shawarby
Publikováno v:
Nasza Dermatologia Online, Vol 9, Iss 2, Pp 144-147 (2018)
Mal de Meleda is a rare genodermatosis with an autosomal recessive inheritance. Mutations in the SLURP1 gene are the cause of this disease. Clinically, it is characterized by progressive palmoplantar hyperkeratosis exhibiting a transgradiens pattern
Externí odkaz:
https://doaj.org/article/c8b20454321e4d0abe671a6851eed936