Clinical genetics and therapeutics

280 - Phenotypic spectrum associated with mutations of PGAP2 in hyperphosphatasia with mental retardation syndrome-3 (HPMRS3) Mabry syndrome (OMIM 239300).

Previous Eposter
278 - Evaluation of a Phenotyping App in the Detection of Known Genetic Disorders

Next Eposters
281 - Retrospective Electronic Medical Record Analysis Identifies Subjects at Risk of Hypophosphatasia; High Proportion with Concurrent Autoimmune/Endocrine Diagnoses
288 - Preliminary Insight from CADASIL Testing: Using Aggregate Patient Data to Correlate Position of Variants in NOTCH3 to Severity of Disease
291 - Roberts Individualized Medical Genetics Center Hearing Loss Clinic Experience 
294 - ClinGen’s Variant Prioritization Tool (VPT): A Tool for Prioritizing Clinical Variants at Scale
295 - Precision Medicine Advancements Using Whole Genome Sequencing, Noninvasive Whole Body Imaging, and Functional Diagnostics
298 - The Majority of Index Patients with Vascular Ehlers-Danlos Syndrome Do not Have a Positive Family History  
299 - Correlations between Glucosylsphingosine (Lyso-GL-1) and Disease Severity and Response to Oral Eliglustat in Treatment-Naïve Adults with Gaucher Disease Type 1
300 - Morquio A Syndrome: The Critical Role of ERT in Early Infancy
301 - Whole Exome Sequencing in Underserved and Underrepresented Minority Patients in the P3EGS Study at UCSF
302 - Growth Hormone Deficiency: Expanding the Phenotype of Potocki-Lupski syndrome