Clinical genetics and therapeutics

553 - Progressive Acrodysostosis-like Skeletal Dysplasia, Cerebellar Atrophy and Ichthyosis: A Newly Recognized Syndrome

Previous Eposter
552 - Identification of PPA2-Related Disease through Rapid Exome Sequencing in a Severe Case of Childhood-Onset Cardiomyopathy

Next Eposters
555 - Delineating the phenotype of simultaneous FMR1 and FMR2 deletions in females.
556 - The Clinical Phenotype of ANKLE2-related Microcephaly in Three Families
562 - TK2-related Mitochondrial Depletion Syndrome in a Pair of Siblings – a Diagnostic Odyssey Leading to Possible Treatment
564 - A Child With SCN4A Variants And Congenital Diaphragmatic Hernia
570 - First Report of Leigh Syndrome due to Loss of Function Mutations in the NDUFAF6 gene
575 - 24 Mb Interstitial Duplication of the Central Region of the long arm of chromosome 15 from 15q21.3 to 15q25.1 in an infant with mild phenotype
577 - TNRC6A: A Candidate Gene for Autism Spectrum Disorder, Developmental Delay and Congenital Anomalies
585 - Design of a Prospective, Multicenter, Multinational, Observational Safety and Outcomes Registry in Treated and Untreated Patients With Fabry Disease 
586 - Shaping the Future of Rural Genetics - Rural Genomic Medicine and the Legacy of Phil Pallister and John Opitz
591 - Mild PLOD2 Related Bruck Syndrome: Phenotypic Description and Treatment Considerations