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

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Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 188; no. 9; pp. 2819 - 2824
Main Authors 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
Format Report
LanguageEnglish
Published 01.09.2022
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ISSN:1552-4833
DOI:10.1002/ajmg.a.62883