Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.

Autor: 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.; Faculty of Medicine, Department of Biochemistry, UNAM, Mexico City, Mexico., Chacón-Camacho OF; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; School of Medicine, Faculty of Superior Studies-Iztacala, UNAM, Tlalnepantla, Mexico., Peña-Padilla C; 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., Bobadilla-Morales L; 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.; University of Guadalajara Health Sciences University Center, Department of Molecular Biology and Genomics, 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Guadalajara, 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.; University of Guadalajara Health Sciences University Center, Department of Molecular Biology and Genomics, 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Guadalajara, Mexico., Romo-Huerta CO; Service of Ophthalmology, Division of Pediatrics, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico., Zepeda-Romero LC; Service of Neonatal Ophthalmology, Division of Pediatrics, 'Fray Antonio Alcalde' Civil Hospital of Guadalajara, Guadalajara, Mexico., López-Marure E; Service of Radiology, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico., Acosta-León J; Service of Urology, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico., García-Cruz D; University of Guadalajara Health Sciences University Center, Department of Molecular Biology and Genomics, 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Guadalajara, Mexico., Maciel-Cruz EJ; University of Guadalajara Health Sciences University Center, Department of Molecular Biology and Genomics, 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Guadalajara, Mexico., Corona-Rivera JR; 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.; University of Guadalajara Health Sciences University Center, Department of Molecular Biology and Genomics, 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Guadalajara, Mexico.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 May; Vol. 182 (5), pp. 1223-1229. Date of Electronic Publication: 2020 Feb 05.

Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome.

Autor: Corona-Rivera JR; Servicio de Genética, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, and Instituto de Genética Humana Dr. Enrique Corona-Rivera, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico. rocorona@cucs.udg.mx, Cormier-Daire V, Dagoneau N, Coello-Ramírez P, López-Marure E, Romo-Huerta CO, Silva-Baez H, Aguirre-Salas LM, Estrada-Solorio MI

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2009 Jul-Aug; Vol. 52 (4), pp. 242-6. Date of Electronic Publication: 2009 Apr 14.