Epidermolysis Bullosa Simplex with Muscular Dystrophy
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1117-1
Reference22 articles.
1. Al-Thawabieh W, Lucky AW, Wong B, Motley WW (2018) Pediatric Ophthalmoplegia and ptosis in epidermolysis bullosa simplex associated with muscular dystrophy. J Pediatr Ophthalmol Strabismus 55:e26–e29
2. Alvarez VC, Penttilä ST, Salutto VL, Udd B, Mazia CG (2016) Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation. Neurol Genet 2(6):e109
3. Argyropoulou Z, Liu L, Ozoemena L, Branco CC, Senra R, Reis-Rego Â, Mota-Vieira L (2018) A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. BMC Dermatol 18(1):1
4. Babić I, Karaman-Ilić M, Pustisek N, Susić S, Skarić I, Kljenak A, Cikojević D (2010) Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: a case report. Int J Pediatr Otorhinolaryngol 74(3):302–305
5. Banwell BL, Russel J, Fukudome T, Shen X-M, Stilling G, Engel AG (1999) Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol 58(8):832–846
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