Article
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function.
Human mutation - 1 Jul 2010
Piters Elke, Culha Cavit, Moester Martiene, Van Bezooijen Rutger, Adriaensen Dirk, Mueller Thomas, Weidauer Stella, Jennes Karen, de Freitas Fenna, Löwik Clemens, Timmermans Jean-Pierre, Van Hul Wim, Papapoulos Socrates
Abstract excerpt
Sclerosteosis is a rare bone dysplasia characterized by greatly increased bone mass, especially of the long bones and the skull. Patients are tall, show facial asymmetry and often have syndactyly. Clinical complications are due to entrapment of cranial nerves. The disease is thought to be due to...
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