Publications by authors named "Victoria Eugenia F Montano"
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.
Marta Pacio-Miguez Manuel Parrón-Pajares Christopher T Gordon Fernando Santos-Simarro Carmen Rodríguez Jiménez
Am J Med Genet A
September 2022
Article Synopsis
- EVEN-PLUS syndrome is a rare genetic disorder caused by mutations in the HSPA9 gene, which encodes the mitochondrial chaperone mortalin.
- It shares similarities with CODAS syndrome and is marked by conditions affecting the bones (Epiphyses and Vertebrae) and certain features of the ears and nose.
- The study expands the understanding of EVEN-PLUS syndrome by reporting two siblings with milder symptoms and unique genetic variants, along with confirming a previously reported mutation in a different condition called EVE dysplasia.