Clinical genetics and therapeutics

251 - Limitations of Whole Exome Sequencing in Detecting Rare and Undiagnosed Diseases

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250 - A Natural History Study of Generalized Arterial Calcification of Infancy (GACI) and Hyophosphatemic Rickets due to ENPP1 or ABCC6 Deficiency

Next Eposters
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
265 - MALODYC syndrome: Novel X-linked Disorder of Transcriptional Regulation Characterized by lntellectual Disability and Marfanoid Habitus
266 - Undiagnosed skeletal dysplasias after next generation sequencing tests: Is the answer performing a karyotype?
267 - One-year Pilot Treatment Trial of Oral Nitisinone in Oculocutaneous Albinism, type 1b
269 - Advances in Technology Improve Diagnosis of Phelan-McDermid Syndrome, Leading to Better Understanding of the Disorder’s Presentation
270 - Disease Manifestations and Asfotase Alfa Treatment Outcomes by ALPL Variant Class in Adolescents and Adults with Hypophosphatasia