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autosomal dominant metastatic keratosis 相关文献:
Pachyonychia Congenita.
Smith FJD, Hansen CD, Hull PR, Kaspar RL, McLean WHI, O’Toole E, Sprecher E.
2006 Jan 27 [updated 2017 Nov 30]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:20301457
Efficacy of alitretinoin in the treatment of Darier disease: a case report.
Pagon A, Dolenc Voljč M.
Acta Dermatovenerol Alp Pannonica Adriat. 2023 Dec;32(4):191-195.
PMID:38126103
Acquired Darier disease in a patient with metastatic prostate cancer: a paraneoplastic process?
Pararajasingam A, Ponnambath N.
Dermatol Online J. 2020 Nov 15;26(11):13030/qt40z3v8vq.
PMID:33342177
A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome.
Ni C, Yan M, Zhang J, Cheng R, Liang J, Deng D, Wang Z, Li M, Yao Z.
Sci Rep. 2016 Feb 23;6:21815. doi: 10.1038/srep21815.
PMID:26902751
Noonan Syndrome Presenting with Stunted Growth: A Case Report.
Mondal E, Chanda PK, Musabber NA, Haque MA, Robel AB, Deb PK, Biswas H, Moshwan MM, Azad U, Kamrul-Hasan AB.
Mymensingh Med J. 2022 Jan;31(1):263-266.
PMID:34999713
Kaposi-Juliusberg varicelliform eruption in patients suffering from Darier-White Disease: a case report and review of the literature.
Molinelli E, Ricotti F, Campanati A, Cataldi I, Ganzetti G, Liberati G, Bianchelli T, Offidani A.
G Ital Dermatol Venereol. 2016 Oct;151(5):558-61. Epub 2014 Dec 11.
PMID:25502366
Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review.
Trufant JW, Greene L, Cook DL, McKinnon W, Greenblatt M, Bosenberg MW.
Hum Pathol. 2012 Apr;43(4):601-4. doi: 10.1016/j.humpath.2011.06.022. Epub 2011 Oct 21.
PMID:22018627
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schröck E, Royer-Pokora B, Franke WW, Sperling K, et al.
Nat Genet. 1994 Feb;6(2):174-9. doi: 10.1038/ng0294-174.
PMID:7512862
Autosomal dominant epidermodysplasia verruciformis: a clinicotherapeutic experience in two cases.
Vohra S, Sharma NL, Shanker V, Mahajan VK, Jindal N.
Indian J Dermatol Venereol Leprol. 2010 Sep-Oct;76(5):557-61. doi: 10.4103/0378-6323.69092.
PMID:20826999
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Morin G, Bruechle NO, Singh AR, Knopp C, Jedraszak G, Elbracht M, Brémond-Gignac D, Hartmann K, Sevestre H, Deutz P, Hérent D, Nürnberg P, Roméo B, Konrad K, Mathieu-Dramard M, Oldenburg J, Bourges-Petit E, Shen Y, Zerres K, Ouadid-Ahidouch H, Rochette J.
Hum Mutat. 2014 Oct;35(10):1221-32. doi: 10.1002/humu.22621.
PMID:25044882
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