First Report of Mexican Patients with PACS1 -Related Neurodevelopmental Disorder and Review of the PACS1 -, PACS2 -, and WDR37 -Related Ophthalmological Manifestations.

Autor: 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.; Department of Molecular Biology and Genomics, 'Dr. Enrique Corona Rivera' Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara, Guadalajara, Mexico., Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.; Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico., López-Pérez LG; Service of Genetics, Hospital of Pediatrics, UMAE, Western National Medical Center, Mexican Social Security Institute (IMSS), Guadalajara, Mexico., Yokoyama-Rebollar E; Human Genetics Department, National Institute of Pediatrics, Mexico City, Mexico., Villarroel CE; Human Genetics Department, National Institute of Pediatrics, Mexico City, Mexico., Barragán-Arévalo T; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Montes-Almanza LÁ; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Zepeda-Romero LC; Service of Ophthalmology, Division of Pediatrics, 'Fray Antonio Alcalde' Civil Hospital of Guadalajara, Guadalajara, Mexico., Morales-Domínguez GE; 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., 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.; Department of Molecular Biology and Genomics, 'Dr. Enrique Corona Rivera' Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara, 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.; Department of Molecular Biology and Genomics, 'Dr. Enrique Corona Rivera' Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara, Guadalajara, Mexico.

Publikováno v: Molecular syndromology [Mol Syndromol] 2023 Apr; Vol. 14 (2), pp. 143-151. Date of Electronic Publication: 2022 Dec 16.