Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation

Emily Mira Warshauer, Paul A Maier, Goran Runfeldt, Ignacia Fuentes, Maria José Escamez, Laura Valinotto, Monica Natale, Graciela Manzur, Nuria Illera, Marta Garcia, Marcela Del Rio, Angeles Mencia, Almudena Holguin, Fernando Larcher, Garrett Hellenthal, Adam R Brown, Liliana Consuegra, Carolina Rivera, Inês Nogueiro, Jean Tang, Anthony Oro, Peter Marinkovich, Francis Palisson, Matthias Titeux, Alain A Hovnanian, Eli Sprecher, Karl Skorecki, David Norris, Anna Bruckner, Igor Kogut, Ganna Bilousova, Dennis Roop

Open source

DOI: 10.1136/jmg-2025-110967
Published: 2025-09-24
Container: Journal of Medical Genetics
Publisher: BMJ
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1136/jmg-2025-110967,
  title = {Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation},
  author = {Emily Mira Warshauer and Paul A Maier and Goran Runfeldt and Ignacia Fuentes and Maria José Escamez and Laura Valinotto and Monica Natale and Graciela Manzur and Nuria Illera and Marta Garcia and Marcela Del Rio and Angeles Mencia and Almudena Holguin and Fernando Larcher and Garrett Hellenthal and Adam R Brown and Liliana Consuegra and Carolina Rivera and Inês Nogueiro and Jean Tang and Anthony Oro and Peter Marinkovich and Francis Palisson and Matthias Titeux and Alain A Hovnanian and Eli Sprecher and Karl Skorecki and David Norris and Anna Bruckner and Igor Kogut and Ganna Bilousova and Dennis Roop},
  year = {2025},
  journal = {Journal of Medical Genetics},
  doi = {10.1136/jmg-2025-110967},
  url = {https://doi.org/10.1136/jmg-2025-110967}
}

RIS

TY  - JOUR
TI  - Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation
AU  - Emily Mira Warshauer
AU  - Paul A Maier
AU  - Goran Runfeldt
AU  - Ignacia Fuentes
AU  - Maria José Escamez
AU  - Laura Valinotto
AU  - Monica Natale
AU  - Graciela Manzur
AU  - Nuria Illera
AU  - Marta Garcia
AU  - Marcela Del Rio
AU  - Angeles Mencia
AU  - Almudena Holguin
AU  - Fernando Larcher
AU  - Garrett Hellenthal
AU  - Adam R Brown
AU  - Liliana Consuegra
AU  - Carolina Rivera
AU  - Inês Nogueiro
AU  - Jean Tang
AU  - Anthony Oro
AU  - Peter Marinkovich
AU  - Francis Palisson
AU  - Matthias Titeux
AU  - Alain A Hovnanian
AU  - Eli Sprecher
AU  - Karl Skorecki
AU  - David Norris
AU  - Anna Bruckner
AU  - Igor Kogut
AU  - Ganna Bilousova
AU  - Dennis Roop
PY  - 2025
JO  - Journal of Medical Genetics
DO  - 10.1136/jmg-2025-110967
UR  - https://doi.org/10.1136/jmg-2025-110967
ER  -

APA

Warshauer, E. M., Maier, P. A., Runfeldt, G., Fuentes, I., Escamez, M. J., Valinotto, L., Natale, M., Manzur, G., Illera, N., Garcia, M., Rio, M. D., Mencia, A., Holguin, A., Larcher, F., Hellenthal, G., Brown, A. R., Consuegra, L., Rivera, C., Nogueiro, I., Tang, J., Oro, A., Marinkovich, P., Palisson, F., Titeux, M., Hovnanian, A. A., Sprecher, E., Skorecki, K., Norris, D., Bruckner, A., Kogut, I., Bilousova, G., & Roop, D. (2025). Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation. Journal of Medical Genetics. https://doi.org/10.1136/jmg-2025-110967

Source records

crossref · retrieved 2026-09-25T18:39:36.354Z