Clinical genetics and therapeutics

405 - Integrating Facial Recognition Analysis to Routine Clinical Practice: Lessons from the Evaluation of 30 Undiagnosed Individuals

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401 - Novel Findings of Craniosynostosis and Horseshoe Kidney Associated with NOG Pathogenic Variant and Stapes Ankylosis with Broad Thumbs and Toes (SABTT)

Next Eposters
408 - Effect of Long-Term Migalastat Treatment on Lyso-Gb3 Levels in Patients With Fabry Disease: Results From ATTRACT and Open-Label Extension Studies
410 - A De Novo Homozygous SPTAN1 Variant with Uniparental Isodisomy 9 Resulting in Autosomal Recessive Ataxia and Intellectual Disability
417 - Paternal Isodisomy and Blended Phenotypes: A Pediatric Case with Mosaic Trisomy 8 and a Homozygous CSGALNACT1 Missense Variant
420 - Emerging Genetic Disorders and Addressing Phenotypic Variability: Xia-Gibbs Syndrome
422 - An Analysis of Clinical Documentation Submitted with Diagnostic Exome Sequencing Orders and the Added Burden or Benefit of Insurance Billing
424 - A Precision Whole Genomic Approach in Individuals with Vision and Hearing Loss
425 - Applying the ClinGen Gene-Disease Validity Framework During Reporting for a Clinical Whole Genome Sequencing Test
432 - Paternal Constitutional Mosaicism Resulting in Inheritance of Weidemann-Steiner Syndrome: A Rare Case Report
436 - A Robust 4-plex Real-Time PCR Assay that Detects SMN1, TREC, KREC and RPP30 for Newborn Screening
439 - Eosinophilic Esophagitis Diagnosis in Patients with Sex Chromosome Aneuploidies