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- Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly ...
- Van der Woude syndrome is a condition that affects the development of the face. Many people with ...
- ... EVC gene have been reported to cause Ellis-van Creveld syndrome, an inherited disorder characterized by dwarfism, ... function underlies the signs and symptoms of Ellis-van Creveld syndrome, researchers believe that it may prevent ...
- ... EVC2 gene have been found to cause Ellis-van Creveld syndrome, an inherited disorder characterized by dwarfism, ... function underlies the signs and symptoms of Ellis-van Creveld syndrome, researchers believe that it may prevent ...
- ... of SOST-related sclerosing bone dysplasia: sclerosteosis and van Buchem disease. The two forms are distinguished by ... sclerosteosis may also have absent or malformed nails.Van Buchem disease represents the milder form of the ...
- ... that were once considered distinct disorders: Brown-Vialetto-Van Laere syndrome (BVVLS) and Fazio-Londe disease. The ... signs and symptoms of the condition. Brown-Vialetto-Van Laere syndrome BVVLS Fazio-Londe disease Fazio-Londe ...
- ... or Free article on PubMed Central Balemans W, Van Hul W. The genetics of low-density lipoprotein ... B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, ...
- ... 23 duplication syndrome Dup(7)(q11.23) Somerville-Van der Aa syndrome Trisomy 7q11.23 WBS duplication ... on PubMed or Free article on PubMed Central Van der Aa N, Rooms L, Vandeweyer G, van ...
- ... Vacuolating leukoencephalopathy Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Van der Knaap disease Genetic Testing Registry: Megalencephalic leukoencephalopathy ...
- ... Pauli RM. Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution. Am ... Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens ...