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A case of adult-onset localized recessive dystrophic epidermolysis bullosa, harboring the novel COL7A1 mutation p.G2754E and the previously reported mutation p.R1763.

Eijiro AkasakaDaiki RokunoheHajime NakanoShingo YamataniDaisuke Sawamura
Published in: The Journal of dermatology (2023)
Keyphrases
  • intellectual disability