Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1

Elda Ariadna Flores-Contreras, José Elías García-Ortiz, Carla Daniela Robles-Espinoza, Viviana Zomosa-Signoret, Luis Eduardo Becerra-Solano, Román Vidaltamayo, Carolina Castaneda-García, Eduardo Esparza-García, Christian Molina-Aguilar, Angélica Alejandra Hernández-Orozco, Carlos Córdova-Fletes

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