Sclerosteosis is an autosomal recessive disorder characterized by bone overgrowth. It was first described in 1958 but given the current name in 1967....
4 KB (375 words) - 17:06, 20 July 2024
protein are associated with disorders associated with high bone mass, sclerosteosis and van Buchem disease. van Buchem disease is an autosomal recessive...
26 KB (2,707 words) - 08:25, 26 March 2024
syndrome Robinow syndrome Sandhoff disease Schneckenbecken dysplasia Sclerosteosis Severe X-linked myotubular myopathy Sialuria Simpson-Golabi-Behmel syndrome...
18 KB (1,723 words) - 11:31, 16 September 2024
autosomal recessive 2 Rubinstein-Taybi syndrome due to CREBBP mutations Sclerosteosis 1 Shprintzen-Goldberg syndrome Spondyloepimetaphyseal dysplasia with...
11 KB (1,097 words) - 03:17, 9 August 2024
cholangitis Sclerosing lymphocytic lobulitis Sclerosing mesenteritis Sclerosteosis Sclerotylosis SCOT deficiency Scott–Bryant–Graham syndrome Scott syndrome...
23 KB (1,933 words) - 06:25, 11 July 2024
Schwannomatosis; 162091; NF2 Schwartz–Jampel syndrome, type 1; 255800; HSPG2 Sclerosteosis; 269500; SOST Sea-blue histiocyte disease; 269600; APOE Sebastian syndrome;...
234 KB (18,877 words) - 15:43, 9 May 2024