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ENEpidermolysis Bullosa Simplex 5b, with Muscular Dystrophy (EBS5B)
Alias:
Epidermolysis Bullosa Simplex with Muscular Dystrophy
Limb-Girdle Muscular Dystrophy with Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex and Limb-Girdle Muscular Dystrophy
Md-Ebs
Ebs with Muscular Dystrophy
Ebs-Md
Ebs5b
Ebsmd
Epidermolysa Bullosa Simplex and Limb Girdle Muscular Dystrophy
Muscular Dystrophy with Epidermolysis Bullosa Simplex
Epidermolysa Bullosa Simplex, with Muscular Dystrophy
Mdebs
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Epidermolysis Bullosa Simplex 5b, with Muscular Dystrophy, also known as epidermolysis bullosa simplex with muscular dystrophy, is related to epidermolysis bullosa simplex and epidermolysis bullosa. An important gene associated with Epidermolysis Bullosa Simplex 5b, with Muscular Dystrophy is PLEC (Plectin), and among its related pathways/superpathways are Extracellular matrix organization and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include skin and eye, and related phenotypes are aphasia and myopathy
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