Zobrazeno 1 - 10
of 144
pro vyhledávání: '"Nail dysplasia"'
A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-10 (2019)
Abstract Background Autosomal recessive nail dysplasia is characterized by thick and hard nails with a very slow growth on the hands and feet. Mutations in FZD6 gene were found to be associated with autosomal recessive nail dysplasia in 2011. Present
Externí odkaz:
https://doaj.org/article/bf1f2b0051df4f6689786b8f11bb0a6c
Autor:
Mirsajjad MOUSAVI-ASL GERMEH CHESHMEH, Ali NAJIZADEH, Saied HOSSEINI-ASL, Hooshang ZAIMKOHAN, Roshanak JAZAYERI
Publikováno v:
Iranian Journal of Public Health, Vol 48, Iss 7 (2019)
Congenital Nail abnormalities are rare ectodermal defects. Autosomal recessive nail dysplasia is much rarer. Recently it has been recognized as a condition resulting in nail dystrophy in the absence of other cutaneous or extracutaneous disorders. Few
Externí odkaz:
https://doaj.org/article/0c37025d97fa4d799bc0ac591be99f86
Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa
Autor:
Henny H. Lemmink, Gilles F. H. Diercks, P. C. van den Akker, R. Baardman, Sabrina Z. Jan, M.C. Bolling, Jeroen Bremer
Publikováno v:
Journal of the European Academy of Dermatology and Venereology, 35(9), 597-600. Wiley
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1b469494a27fc5c08580d760530a70b
https://hdl.handle.net/11370/b8b42ecb-4cae-4f19-af58-84b61b79de6e
https://hdl.handle.net/11370/b8b42ecb-4cae-4f19-af58-84b61b79de6e
Autor:
Subramaniam P, Neeraja R
Publikováno v:
Journal of Indian Society of Pedodontics and Preventive Dentistry, Vol 26, Iss 1, Pp 22-25 (2008)
Witkop′s tooth and nail syndrome is a rare autosomal dominant disorder of ectodermal dysplasia characterized by hypodontia and nail dysplasia. Mutations in MSX-1 have been shown to be associated with this syndrome. There is failure of development a
Externí odkaz:
https://doaj.org/article/80174fc552c34e91b498ceb4c1f0cd3b
Akademický článek
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Publikováno v:
Dermatology Reports, Vol 13, Iss 2 (2021)
Dermatology Reports
Dermatology Reports
The ectopic nail (EN) is an additional nail located in an abnormal site. It belongs to the onycho-heterotopia, a rare condition whose pathogenesis is indeterminate. This article illustrates the clinical-morphological and dermoscopic points of view, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2368c68093af62c0a2b7d684e906652
https://www.pagepress.org/journals/index.php/dr/article/view/9068
https://www.pagepress.org/journals/index.php/dr/article/view/9068
Akademický článek
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Autor:
Ali Najizadeh, Mirsajjad Mousavi-Asl Germeh Cheshmeh, Saied Hosseini-Asl, Roshanak Jazayeri, Hooshang Zaimkohan
Publikováno v:
Iranian Journal of Public Health
Iranian Journal of Public Health, Vol 48, Iss 7 (2019)
Iranian Journal of Public Health, Vol 48, Iss 7 (2019)
Congenital Nail abnormalities are rare ectodermal defects. Autosomal recessive nail dysplasia is much rarer. Recently it has been recognized as a condition resulting in nail dystrophy in the absence of other cutaneous or extracutaneous disorders. Few
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e74a28a9ba4fbe9fb36bd2196ebdb158
http://europepmc.org/articles/PMC6708523
http://europepmc.org/articles/PMC6708523
Autor:
Nagendra Boopathy Senguttuvan, Arjun Sivaraman, Devasenathipathy Kandasamy, Kanniraj Marimuthu
Publikováno v:
The Pan African Medical Journal, Vol 9, Iss 31 (2011)
Nail Patella Syndrome (NPS) is a rare hereditary disease affecting multiple systems with predominant involvement of Kidney, Bones and Nails and Eyes. We report a case of NPS which presented as renal failure in a 22 year old male. The patient was admi
Externí odkaz:
https://doaj.org/article/24e32712f7e64d3cb4044637993d8159
Kniha
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