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

Por Toral-López, Jaime, González-Huerta, Luz M., Messina Baas, Olga, Cuevas-Covarrubias, Sergio A.
Publicado no Mol Syndromol (2016)

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

Por Toral-López, Jaime, Córdoba-Cabeza, Tania, Villeda, Maricela, Cortes-Castillo, Gabriel, Zenteno, Juan Carlos
Publicado no 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...

Por Toral-Lopez, Jaime, Huerta, Luz María González, Messina-Baas, Olga, Cuevas-Covarrubias, Sergio A
Publicado no World J Clin Cases (2020)

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

Por Messina-Baas, Olga, Gonzalez-Garay, Manuel L., González-Huerta, Luz M., Toral-López, Jaime, Cuevas-Covarrubias, Sergio A.
Publicado no Mol Syndromol (2016)

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

Por 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.
Publicado no Mol Syndromol (2016)