Clinical genetics and therapeutics

337 - Compound Heterozygous Variants in IL6ST Associated with Immunodeficiency and GP130 Deficiency

Previous Eposter
334 - Migalastat Reduces Globotriaosylceramide (GL-3) Inclusions in Renal Peritubular Capillaries in Patients With Fabry Disease: Post hoc Analyses from FACETS

Next Eposters
338 - Primrose Syndrome: Characterizing the Pediatric Phenotype
339 - Clinical Diagnostic Exome Sequencing in Patients with Neuromuscular Disorders: Genetic Testing Challenges for Complex Conditions
345 - PGxTyper - A Computational Workflow to Automate the Identification and Annotation of Clinically Actionable PGx Variants  
346 - Overcoming the “N of 1” Problem: Novel Disease Gene Discovery in the Undiagnosed Diseases Network
347 - Utility of genomic sequencing in cases of early-onset and familial dementia
348 - A Male with 45,X with a SHOX Deletion and SRY-Bearing X Chromosome: Challenges to Management Recommendations
353 - Applying the ClinGen Gene-Disease Validity Framework to the ACMG 59 and Other Medically Actionable Genes
354 - The Utility of Genetic Testing in the Treatment of Rare Diseases
356 - Novel Comorbidities and Natural History Analysis of the 17q21.31 Microdeletion Syndrome (KdVS) Through GenIDA, a Participatory International Online Database for Genetic Forms of Intellectual Disability and Autism
358 - Co-occurrence of Duchenne Muscular Dystrophy and Klinefelter’s Syndrome-A Modified Phenotype