| 概要 |
Craniodiaphyseal dysplasia (CDD) is an autosomal dominant sclerotic bone disorder characterized by distinctive facial dysmorphism-prominent zygomatic bones, broadening of the center of the face, hypertelorism, a small upturned tip of the nose, prominent jaw, and open mouth. Mutations preventing the secretion of SOST have been identified as being responsible for CDD.
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| 著者 |
Kim SJ, Bieganski T, Sohn YB, Kozlowski K, Semenov M, Okamoto N, Kim CH, Ko AR, Ahn GH, Choi YL, Park SW, Ki CS, Kim OH, Nishimura G, Unger S, Superti-Furga A, Jin DK |
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| 著者 |
Bieganski T, Baranska D, Miastkowska I, Kobielski A, Gorska-Chrzastek M, Kozlowski K |
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