Clinical genetics and therapeutics

237 - Low Level Mosaicism in Turner Syndrome: Implications for Surveillance and Management

Previous Eposter
231 - “Seeing Stars”: Treatment of Profound Biotinidase Deficiency Identified via Whole Exome Sequencing Restores Vision Loss in 49-Year-Old Male

Next Eposters
239 - CHAMPIONS: A Phase 1/2 Clinical Trial for Treatment of MPS II (Hunter Syndrome) with SB-913 ZFN-Mediated In Vivo Human Genome-Editing
240 - Early Diagnosis and Speed to Effect in Spinal Muscular Atrophy Type 1 (SMA1)
249 - Cascade Testing of Personalized Diabetes Medicine Program (PDMP) Probands is Efficient in Diagnosing At-Risk Individuals of Monogenic Diabetes
250 - A Natural History Study of Generalized Arterial Calcification of Infancy (GACI) and Hyophosphatemic Rickets due to ENPP1 or ABCC6 Deficiency
251 - Limitations of Whole Exome Sequencing in Detecting Rare and Undiagnosed Diseases
252 - Lentiviral hematopoietic stem cell gene therapy (HSC-GT) for metachromatic leukodystrophy (MLD) provides sustained clinical benefit
254 - Pre-authorization for Whole Exome Sequencing: One Center’s Experience
258 - De novo missense variants in GARS cause severe early-onset Spinal Muscular Atrophy —Implications for diagnosis and treatment
261 - Increasing Awareness and Earlier Testing for Mucopolysaccharidoses to Improve Patient Outcomes: Updated Results from Simply Test for MPS™ Enzyme-Panel Program
264 - Orthopaedic Manifestations in Cohen Syndrome: A Review of 34 Patients