Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants
Compose Response

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g.
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Statement of Competing Interests


  • Responses are moderated before posting and publication is at the absolute discretion of BMJ, however they are not peer-reviewed
  • Once published, you will not have the right to remove or edit your response. Removal or editing of responses is at BMJ's absolute discretion
  • If patients could recognise themselves, or anyone else could recognise a patient from your description, please obtain the patient's written consent to publication and send them to the editorial office before submitting your response [Patient consent forms]
  • By submitting this response you are agreeing to our full [Response terms and requirements]

Vertical Tabs

Other responses

  • Published on:
    The D982G missense mutation in LAMB3 is unlikely to cause junctional epidermolysis bullosa

    We found this paper to be immensely informative while researching junctional epidermolysis bullosa (JEB) for a particular clinical case, which is described below. During the course of testing for this particular case we found evidence suggesting that that the D982G mutation in LAMB3 may not be disease-causing.

    In their paper, Varki, Sadowski, and Pfender et al. present the case of an eight-month-old male patie...

    Show More
    Conflict of Interest:
    None declared.