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ENLarsen-Like Syndrome B3gat3 Type
Alias:
Larsen-Like Syndrome, B3gat3 Type
Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome
Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with Congenital Heart Defects
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Larsen-Like Syndrome B3gat3 Type, also known as larsen-like syndrome, b3gat3 type, is related to multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects and pseudodiastrophic dysplasia. An important gene associated with Larsen-Like Syndrome B3gat3 Type is B3GAT3 (Beta-1,3-Glucuronyltransferase 3), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include bone and heart, and related phenotypes are limbs/digits/tail and growth/size/body region
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