Clinical genetics and therapeutics

353 - Applying the ClinGen Gene-Disease Validity Framework to the ACMG 59 and Other Medically Actionable Genes

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348 - A Male with 45,X with a SHOX Deletion and SRY-Bearing X Chromosome: Challenges to Management Recommendations

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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
359 - Novel DOCK7 Pathogenic Variants in Three Siblings with Epileptic Encephalopathy, Cortical Visual Impairment, and Structural Brain Abnormalities
360 - The clinical features and genotypes of neurofibromatosis type 1 patients with NF1 microdeletions
363 - Natural History of Achondroplasia: a Retrospective Study of Patients Managed by a Multispecialty Program.
368 - Oral Chelation Therapy to Treat HypermanganesemiaOral Chelation Therapy to Treat Hypermanganesemia
369 - Novel Deleterious ACBD5 Gene Variant Associated with Optic Atrophy, White Matter Disease, and Psychomotor Regression: Case Report and Literature Review
370 - Genetic Findings in Patients Presenting with Childhood Apraxia of Speech
374 - Molecular Genetic Studies with SNP Arrays and WES in 20 Patients with  Microphthalmia, Anophthalmia and Coloboma (MAC) from Pakistan