ArticleMolecular syndromology2021

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

Elda Ariadna Flores-Contreras et al.PubMed ↗Full text ↗Publisher ↗

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