A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype

著者: Toral-López, Jaime, González-Huerta, Luz M., Messina Baas, Olga, Cuevas-Covarrubias, Sergio A.
出版年 Mol Syndromol (2016)

Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III

著者: Toral-López, Jaime, Córdoba-Cabeza, Tania, Villeda, Maricela, Cortes-Castillo, Gabriel, Zenteno, Juan Carlos
出版年 J Pediatr Genet (2013)

Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations...

著者: Toral-Lopez, Jaime, Huerta, Luz María González, Messina-Baas, Olga, Cuevas-Covarrubias, Sergio A
出版年 World J Clin Cases (2020)

Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract

著者: Messina-Baas, Olga, Gonzalez-Garay, Manuel L., González-Huerta, Luz M., Toral-López, Jaime, Cuevas-Covarrubias, Sergio A.
出版年 Mol Syndromol (2016)

Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis

著者: Linares Chávez, Etzalli P., Toral López, Jaime, Valdés Miranda, Juan M., González Huerta, Luz M., Perez Cabrera, Adrian, del Refugio Rivera Vega, María, Messina Baas, Olga M., Cuevas-Covarrubias, Sergio A.
出版年 Mol Syndromol (2016)