Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Julio Benítez-Pascual"'
Autor:
Juan Pablo Meza-Espinoza, Juan Ramón González-García, Nayeli Nieto-Marín, Liliana Itzel Patrón-Baro, Rosa María González-Arreola, Eliakym Arámbula-Meraz, Julio Benítez-Pascual, Alberto Kousuke De la Herrán-Arita, Claudia Desireé Norzagaray-Valenzuela, Marco Antonio Valdez-Flores, Tomás Adrián Carrillo-Cázares, Verónica Judith Picos-Cárdenas
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background Ring chromosome 14 syndrome is a rare disorder primarily marked by early-onset epilepsy, microcephaly, distinctive craniofacial features, hypotonia, intellectual disability, and delay in both development and language acquisition.
Externí odkaz:
https://doaj.org/article/e33d5175759a4250aeb0dc1cd2918616
Autor:
Juan Pablo Meza-Espinoza, José Alfredo Contreras-Gutiérrez, Eliakym Arámbula-Meraz, Juan Ramón González-García, Ma. Guadalupe Domínguez-Quezada, Noemí García-Magallanes, Jesús Madueña-Molina, Julio Benítez-Pascual, Miriam Partida-Pérez, Verónica Judith Picos-Cárdenas
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-8 (2021)
Abstract Background 4q deletion syndrome is a rare chromosomal disorder that mostly arises de novo. The syndrome is characterized by craniofacial dysmorphism, digital abnormalities, skeletal alterations, heart malformations, developmental delay, grow
Externí odkaz:
https://doaj.org/article/58e75f044b6d4ba493f7a36db8751beb