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名词信息
中 文 名:
Carvajal-Huerta 综合征
英 文 名:
Carvajal-Huerta syndrome
中文又称:
中文曾称:
名词来源:
所属专业:
皮肤科
所属类别:
疾病诊断名词
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Pubmed相关的文献
Carvajal-Huerta syndrome
相关文献:
Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.
Herbert Pratt C, Potter CS, Fairfield H, Reinholdt LG, Bergstrom DE, Harris BS, Greenstein I, Dadras SS, Liang BT, Schofield PN, Sundberg JP.
Exp Mol Pathol. 2015 Apr;98(2):164-72. doi: 10.1016/j.yexmp.2015.01.015. Epub 2015 Feb 7.
PMID:25659760
Structural and molecular pathology of the heart in Carvajal syndrome.
Kaplan SR, Gard JJ, Carvajal-Huerta L, Ruiz-Cabezas JC, Thiene G, Saffitz JE.
Cardiovasc Pathol. 2004 Jan-Feb;13(1):26-32. doi: 10.1016/S1054-8807(03)00107-8.
PMID:14761782
Clinical spectrum of woolly hair: indications for cerebral involvement.
Pavone P, Falsaperla R, Barbagallo M, Polizzi A, Praticò AD, Ruggieri M.
Ital J Pediatr. 2017 Nov 2;43(1):99. doi: 10.1186/s13052-017-0417-1.
PMID:29096685
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
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 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
[Larva migrans syndrome. Migratory hypodermitis].
Carvajal Huerta L.
Med Cutan Ibero Lat Am. 1983;11(2):73-8.
PMID:6350757
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