Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive (EBS4)

Alias:

Ebs4

Epidermolysis Bullosa Simplex Due to Exophilin 5 Deficiency

Epidermolysis Bullosa, Nonspecific, Autosomal Recessive

Ebs Due to Exophilin 5 Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive, is also known as ebs4. An important gene associated with Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive is EXPH5 (Exophilin 5). Affiliated tissues include skin, and related phenotypes are hyperkeratosis and abnormal blistering of the skin

Related ID：

MALACARDS：EPD104

OMIM：615028

MESH：D004820