Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.
Natale MI, Manzur GB, Lusso SB, Cella E, Giovo ME, Andrada R, Goitia J, Fernández MF, Della Giovanna PS, Guillamondegui MJ, Domínguez M, Gutiérrez O, Izquierdo A, Hernández Herrera H, Velázquez Perdomo LG, Mistchenko AS, Valinotto LE.
Natale MI, et al. Among authors: goitia j.
Am J Med Genet A. 2022 Nov;188(11):3153-3161. doi: 10.1002/ajmg.a.62957. Epub 2022 Aug 18.
Am J Med Genet A. 2022.
PMID: 35979658