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dilated cardiomyopathy with woolly hair and keratosis相关文献:
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy.
Carvajal-Huerta L.
J Am Acad Dermatol. 1998 Sep;39(3):418-21. doi: 10.1016/s0190-9622(98)70317-2.
PMID:9738775
Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy.
Suto JI.
Congenit Anom (Kyoto). 2023 Nov;63(6):200-205. doi: 10.1111/cga.12540. Epub 2023 Sep 13.
PMID:37702215
Naxos disease.
Adhisivam B, Mahadevan S.
Indian J Pediatr. 2006 Apr;73(4):359-60. doi: 10.1007/BF02825834.
PMID:16816500
Molecular genetics of alopecias.
Ramot Y, Zlotogorski A.
Curr Probl Dermatol. 2015;47:87-96. doi: 10.1159/000369408. Epub 2015 Feb 20.
PMID:26370647
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.
Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM, Lambiase PD, Tinker A, McKenna WJ, Kelsell DP.
Br J Dermatol. 2019 May;180(5):1114-1122. doi: 10.1111/bjd.17388. Epub 2019 Jan 2.
PMID:30382575
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.
Guerra L, Magliozzi M, Baban A, Di Mambro C, Di Zenzo G, Novelli A, El Hachem M, Zambruno G, Castiglia D.
Acta Derm Venereol. 2019 Jul 1;99(9):831-832. doi: 10.2340/00015555-3216.
PMID:31073624
Corny feet in the ICU.
Pennou C, Ringuet J, Coulombe J.
Pediatr Dermatol. 2021 Jan;38(1):283-284. doi: 10.1111/pde.14439.
PMID:33630364
A case of Carvajal syndrome presenting with dilated cardiomyopathy.
Arıcı S, Akalın F, Geckinli BB.
Cardiol Young. 2024 May;34(5):1131-1133. doi: 10.1017/S1047951124000222. Epub 2024 Mar 4.
PMID:38433550
Noncompaction and dilated cardiomyopathy in carvajal syndrome.
Tosun D, Akçay N, Bingöl İ, Akbulut DG.
Cardiol Young. 2025 May;35(5):1073-1075. doi: 10.1017/S1047951125001532. Epub 2025 Apr 22.
PMID:40260958
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP.
Hum Mol Genet. 2000 Nov 1;9(18):2761-6. doi: 10.1093/hmg/9.18.2761.
PMID:11063735
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