Original Research

RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations

Chaves Rabelo N, Gomes ME, de Oliveira Moraes I, Cantagalli Pfisterer J, Loss de Morais G, Antunes D, Caffarena ER, Llerena Jr J, Gonzalez S

The Application of Clinical Genetics 2022, 15:153-170

Published Date: 21 October 2022