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

di Toral-López, Jaime, González-Huerta, Luz M., Messina Baas, Olga, Cuevas-Covarrubias, Sergio A.
Pubblicato in Mol Syndromol (2016)

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

di Toral-López, Jaime, Córdoba-Cabeza, Tania, Villeda, Maricela, Cortes-Castillo, Gabriel, Zenteno, Juan Carlos
Pubblicato in 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...

di Toral-Lopez, Jaime, Huerta, Luz María González, Messina-Baas, Olga, Cuevas-Covarrubias, Sergio A
Pubblicato in World J Clin Cases (2020)

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

di Messina-Baas, Olga, Gonzalez-Garay, Manuel L., González-Huerta, Luz M., Toral-López, Jaime, Cuevas-Covarrubias, Sergio A.
Pubblicato in Mol Syndromol (2016)

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

di 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.
Pubblicato in Mol Syndromol (2016)