Mariana L. Meyers

Jun 23, 2023 | onlinelibrary.wiley.com | Molly Crenshaw |Mariana L. Meyers |Kathleen Brown |Valerie Slegesky

Abstract Skeletal dysplasias broadly include disorders of cartilage or bone. Omodysplasia-1 is a type of skeletal dysplasia caused by biallelic loss of function variants in the GPC6 gene. GPC6 codes for the protein glypican 6 (GPC6) (OMIM *604404), which stimulates bone growth. We report a family in which five out of nine children were presented with a skeletal dysplasia characterized phenotypically by mild short stature and rhizomelia.