A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis
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چکیده
منابع مشابه
Epidermodysplasia verruciformis in a young Chinese male
Yau Ma Tei Dermatology Clinic, 12/F, Yau Ma Tei Specialist Clinic, 143 Battery Street, Kowloon, Hong Kong A 22-year-old Chinese male patient presented with eighteen years history of extensive asymptomatic erythematous and hypopigmented papules over his hands, neck, back and knees. A diagnosis of epidermodysplasia verruciformis was made based on the characteristic clinical findings and the histo...
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o relacionarse con infecciones, trastornos metabólicos o ingesta de determinados fármacos durante la gestación, y en ocasiones alertan sobre una alteración subyacente, un síndrome polimalformativo, o una afectación neurológica u osteomuscular9. Otros procesos que deberían considerarse son la aplasia cutánea, la hipoplasia dérmica focal, el síndrome de las bandas amnióticas y los pezones supernu...
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Fig. 1. Pedigree of HHT families sharing the ACVRL1 c.625+1 G>C mutation. (a) The correspondent haplotype of all 14 HHT patients at the affected chromosome region. (b) The pedigree of the five families exhibiting the common ancestor. Probands are marked with arrows. Blackened individuals are affected, either by carrying the mutation and/or having definite HHT. In the upper left index †, definit...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2019
ISSN: 0022-202X
DOI: 10.1016/j.jid.2018.11.011