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
| Autor: | Marta Pacio‐Miguez, Manuel Parrón‐Pajares, Christopher T. Gordon, Fernando Santos‐Simarro, Carmen Rodríguez Jiménez, Rocio Mena, Inmaculada Rueda Arenas, Victoria Eugenia F. Montaño, María Fernández, Mario Solís, Ángela del Pozo, Jeanne Amiel, Sixto García‐Miñaur, María Palomares‐Bralo |
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| Rok vydání: | 2022 |
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| Zdroj: | American Journal of Medical Genetics Part A. 188:2819-2824 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.62883 |
| Databáze: | OpenAIRE |
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