Extreme Clinical Variability Among Carriers of Pathogenic Variant in SSBP1

Affiliations

• ¹ Department of Neuropsychiatry, Federal University of Pernambuco, Recife, Brazil.
• ² Department of Neurology, Hospital das Clínicas de Pernambuco - Empresa Brasileira de Serviços Hospitalares, Federal University of Pernambuco, Recife, Brazil.
• ³ Neurogenetics Unit, Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
• ⁴ Neurology Department, Hospital São Rafael-Rede D'Or São Luiz, Salvador, Brazil.
• ⁵ Department of Ophthalmology, Hospital das Clínicas de Pernambuco - Empresa Brasileira de Serviços Hospitalares, Federal University of Pernambuco, Recife, Brazil.
• ⁶ Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil.
• ⁷ Rare Disease Reference Center (Rarus) - Hospital Maria Lucinda, Recife, Brazil.
• ⁸ National Hospital for Neurology and Neurosurgery, Queen Sq, London, United Kingdom.
• ⁹ Mendelics Genomic Analysis, São Paulo, Brazil.