24
Jul
Mosaic 8q23.1-q24.12 deletion
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Langer-Giedon syndrome (LGS) and Cornelia de Lange Syndrome (CdLS) The genes TPRS1, RAD21, and EXT1 are all in close proximity to one another on chromosome 8 in region 8q23.3-q24.11. TPRS1 and EXT1 are implicated in Langer-Giedon Syndrome (LGS), a rare autosomal dominant deletion disorder characterized by craniofacial abnormalities, osteochondromas,... Read More
