Article
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
American journal of medical genetics. Part A - 1 Sept 2022
Pacio-Miguez Marta, Parrón-Pajares Manuel, Gordon Christopher T, Santos-Simarro Fernando, Rodríguez Jiménez Carmen, Mena Rocio, Rueda Arenas Inmaculada, F Montaño Victoria Eugenia, Fernández María, Solís Mario, Del Pozo Ángela, Amiel Jeanne, García-Miñaur Sixto, Palomares-Bralo María
Abstract excerpt
EVEN-PLUS syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the mitochondrial chaperone called mortalin, encoded by HSPA9. This genetic disorder, presenting with several overlapping features with CODAS syndrome, is characterized by the involvement of the Epiphyses, Vertebrae, Ears, and Nose (EVEN), PLUS associated findings. Only five individuals presenting with the...
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