Lethal acantholytic epidermolysis bullosa

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Lethal acantholytic epidermolysis bullosa
Autosomal recessive - en.svg
This condition is inherited in an autosomal recessive manner.
Specialty Dermatology

Lethal acantholytic epidermolysis bullosa is a fatal genetic skin disorder caused by mutations in DSP [1] [2] [3]

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Notes

  1. ↑ See OMIM entry for complete details
  2. ↑ "Epidermolysis bullosa, lethal acantholytic | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on January 8, 2017. Retrieved 23 February 2019.
  3. ↑ Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E. (2020-09-24). "Epidermolysis bullosa" . Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN   2056-676X. PMID   32973163. S2CID   221861310.


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