Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature
| العنوان: | Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature |
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| المؤلفون: | Lacey Kruse, Karina L Vivar, Jennifer B Scott, Annette Wagner, Anthony J. Mancini, Arianna F Yanes, Duri Yun |
| المصدر: | Pediatric Dermatology. 38:1535-1540 |
| بيانات النشر: | Wiley, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | medicine.medical_specialty, business.industry, Laminopathies, Genodermatosis, Membrane Proteins, Metalloendopeptidases, Laminopathy, Dermatology, medicine.disease, LMNA, Mutation, Pediatrics, Perinatology and Child Health, medicine, Humans, Pediatric dermatology, Restrictive dermopathy, business |
| الوصف: | Restrictive dermopathy (RD) is a rare and lethal laminopathy caused by mutations in LMNA or ZMPSTE24. This series reports 3 patients with RD and reviews the literature of the 113 previously reported cases, including highlights of the unique constellation of clinical findings in RD, as well as histologic, radiographic, and genetic features. Early recognition of these characteristic features is vital to establish a prompt diagnosis and provide adequate family counseling for this terminal condition. |
| تدمد: | 1525-1470 0736-8046 |
| DOI: | 10.1111/pde.14822 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ad5acdbfcef9b77f602ed965a0a6a2f https://doi.org/10.1111/pde.14822 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....9ad5acdbfcef9b77f602ed965a0a6a2f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15251470 07368046 |
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| DOI: | 10.1111/pde.14822 |