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International Medical Case Reports Journal
Volume 17, 2024 - Issue
Case reports
c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome
Milena Barbosa Porto1 Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia, GO, Brazil
https://orcid.org/0000-0002-4662-7218View further author information
https://orcid.org/0000-0002-4662-7218View further author information, , , Elza Maria Gonçalves Santos Uchoa2 Federal University of Goiás, Graduate Program in Genetics and Molecular Biology, Goiânia, GO, Brazilhttps://orcid.org/0000-0001-9388-2054View further author information
https://orcid.org/0000-0001-9388-2054View further author information, , & Aparecido D da Cruz1 Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia, GO, Brazil;2 Federal University of Goiás, Graduate Program in Genetics and Molecular Biology, Goiânia, GO, Brazil;3 Clinical Genetics Service, Center for Rehabilitation and Readaptation Dr. Henrique Santillo, State Health Secretary of Goiás, Goiânia, GO, BrazilCorrespondence[email protected]
https://orcid.org/0000-0003-0753-3814View further author information
https://orcid.org/0000-0003-0753-3814View further author information show all