New Findings from Boai Hospital of Zhongshan in the Area of Coffin-Lowry Syndrome Published (Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with a de novo RPS6KA3...).

Keywords: Coffin-Lowry Syndrome; Genetic Diseases and Conditions; Genetics; Health and Medicine; Nervous System Diseases and Conditions; Neurobehavioral Manifestations; Neurologic Manifestations; Technology; X-Linked Mental Retardation EN Coffin-Lowry Syndrome Genetic Diseases and Conditions Genetics Health and Medicine Nervous System Diseases and Conditions Neurobehavioral Manifestations Neurologic Manifestations Technology X-Linked Mental Retardation 714 714 1 10/03/23 20231006 NES 231006 2023 OCT 6 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Investigators publish new report on Coffin-Lowry syndrome. Eight blastocysts were biopsied to perform PGT and were assessed with a haplotype linkage analysis (30 SNP sites selected), to give results that were consistent with direct mutation detection using Sanger sequencing. [Extracted from the article]