Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation.
Warshauer EM, Maier PA, Runfeldt G, Fuentes I, Escamez MJ, Valinotto L, Natale M, Manzur G, Illera N, Garcia M, Del Rio M, Mencia A, Holguin A, Larcher F, Hellenthal G, Brown AR, Consuegra L, Rivera C, Nogueiro I, Tang J, Oro A, Marinkovich P, Palisson F, Titeux M, Hovnanian AA, Sprecher E, Skorecki K, Norris D, Bruckner A, Kogut I, Bilousova G, Roop D.
Warshauer EM, et al. Among authors: maier pa.
J Med Genet. 2025 Sep 24:jmg-2025-110967. doi: 10.1136/jmg-2025-110967. Online ahead of print.
J Med Genet. 2025.
PMID: 40992924
Free PMC article.