Mutations in FMR1, the gene encoding fragile X messenger ribonucleoprotein 1 (FMRP), located at Xq27.3 and discovered in 1991, are the leading single-gene causes of autism and intellectual disability.
LAWRENCE, KANSAS — The most common inherited cause of intellectual disability, fragile X syndrome, is caused by mutations in a single gene, the FMR1 gene. FMR1 mutations occur when parents possess a ...
Researchers have developed an innovative new nanopore sequencing assay to identify carriers of fragile X syndrome (FXS), the leading cause of monogenic autism spectrum disorder and inherited ...
Data to be Presented at the Hot Topics in Child Neurology Podium Presentation Session at the American Academy of Neurology Annual Meeting PLYMOUTH MEETING, Pa.--(BUSINESS WIRE)-- Harmony Biosciences ...
Harmony Biosciences Provides Update From Its Phase 3 RECONNECT Study of ZYN002 in Fragile X Syndrome
PLYMOUTH MEETING, Pa.--(BUSINESS WIRE)-- Harmony Biosciences Holdings, Inc. (HRMY), today announced topline results from its Phase 3 registrational clinical trial (the RECONNECT Study) of ZYN002 in ...
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