Late-Onset Junctional Epidermolysis Bullosa

Late-Onset Junctional Epidermolysis Bullosa(来自ICD-11)
别称:
Epidermolysis Bullosa Progressiva
Late-Onset Jeb
Jeb-Lo
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Late-Onset Junctional Epidermolysis Bullosa, also known as epidermolysis bullosa progressiva, is related to epidermolysis bullosa dystrophica neurotrophica and epidermolysis bullosa. An important gene associated with Late-Onset Junctional Epidermolysis Bullosa is COL17A1 (Collagen Type XVII Alpha 1 Chain). Affiliated tissues include skin and eye, and related phenotypes are abnormal blistering of the skin and nail dystrophy
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参考文献
MALACARDS
AR
Child
<1/1000000
1
10
--

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