RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.
Natana Chaves RabeloMaria Eduarda GomesIsabelle de Oliveira MoraesJuliana Cantagalli PfistererGuilherme L MoraisDeborah AntunesErnesto Raul CaffarenaJuan Clinton LlerenaSayonara GonzalezPublished in: The application of clinical genetics (2022)
Bringing precision medicine through NGS towards congenital syndromes promotes a better understanding of complex clinical and/or undiagnosed cases. The National Policy for Rare Diseases in Brazil emphasizes the importance of incorporating and optimizing diagnostic methodologies in the Unified Brazilian Health System (SUS). Therefore, this work is an important step for the NGS inclusion in diagnostic genetic routine in the public health system.