Article
Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.
American journal of medical genetics. Part A - 1 Nov 2022
Natale Mónica Inés, Manzur Graciela Beatriz, Lusso Silvina Beatriz, Cella Eliana, Giovo María Elsa, Andrada Romina, Goitia Juana, Fernández María Florencia, Della Giovanna Patricia Silvia, Guillamondegui María José, Domínguez Mariángeles, Gutiérrez Olga, Izquierdo Agustín, Hernández Herrera Heliana, Velázquez Perdomo Luz Graciela, Mistchenko Alicia Susana, Valinotto Laura Elena
Abstract excerpt
Dystrophic epidermolysis bullosa (DEB) is a clinically heterogeneous heritable skin disorder, characterized by blistering of the skin and mucous membranes following minor trauma. Dominant (DDEB) and recessive (RDEB) forms are caused by pathogenic variants in COL7A1 gene. Argentina's population has a heterogeneous genetic background, and little is known about the molecular basis of DEB in our country or in native...
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