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Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
Acosta-Fernández, Elizabeth; Zenteno, Juan C; Chacón-Camacho, Oscar F; Peña-Padilla, Christian; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Romo-Huerta, Carmen O; Zepeda-Romero, Luz C; López-Marure, Eloy; Acosta-León, Jorge; García-Cruz, Diana; Maciel-Cruz, Eric Jonathan; Corona-Rivera, Jorge Román.
Afiliação
  • Acosta-Fernández E; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara, Mexico.
  • Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.
  • Chacón-Camacho OF; Faculty of Medicine, Department of Biochemistry, UNAM, Mexico City, Mexico.
  • Peña-Padilla C; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.
  • Bobadilla-Morales L; School of Medicine, Faculty of Superior Studies-Iztacala, UNAM, Tlalnepantla, Mexico.
  • Corona-Rivera A; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara, Mexico.
  • Romo-Huerta CO; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara, Mexico.
  • Zepeda-Romero LC; University of Guadalajara Health Sciences University Center, Department of Molecular Biology and Genomics, "Dr. Enrique Corona-Rivera" Institute of Human Genetics, Guadalajara, Mexico.
  • López-Marure E; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara, Mexico.
  • Acosta-León J; University of Guadalajara Health Sciences University Center, Department of Molecular Biology and Genomics, "Dr. Enrique Corona-Rivera" Institute of Human Genetics, Guadalajara, Mexico.
  • García-Cruz D; Service of Ophthalmology, Division of Pediatrics, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.
  • Maciel-Cruz EJ; Service of Neonatal Ophthalmology, Division of Pediatrics, "Fray Antonio Alcalde" Civil Hospital of Guadalajara, Guadalajara, Mexico.
  • Corona-Rivera JR; Service of Radiology, Pediatric Division, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara, Mexico.
Am J Med Genet A ; 182(5): 1223-1229, 2020 05.
Article em En | MEDLINE | ID: mdl-32022998
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais / Efrina-B1 / Agenesia do Corpo Caloso / Hérnias Diafragmáticas Congênitas Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Craniofaciais / Efrina-B1 / Agenesia do Corpo Caloso / Hérnias Diafragmáticas Congênitas Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article