Art

J-GLOBAL ID：201402222411895542   Reference number：14A0954290

Skeletal Deformity Associated with SHOX Deficiency

SHOX欠乏を伴う骨格奇形

Author (6)： SEKI Atsuhito (Dep. of Orthopedic Surgery, National Center for Child Health and Dev., Tokyo, JPN) ,  JINNO Tomoko (Dep. of Molecular Endocrinology, National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  SUZUKI Erina (Dep. of Molecular Endocrinology, National Res. Inst. for Child Health and Dev., Tokyo, JPN) ,  TAKAYAMA Shinichiro (Dep. of Orthopedic Surgery, National Center for Child Health and Dev., Tokyo, JPN) ,  OGATA Tsutomu (Dep. of Pediatrics, Hamamatsu Univ. School of Medicine, Hamamatsu, JPN) ,  FUKAMI Maki (Dep. of Molecular Endocrinology, National Res. Inst. for Child Health and Dev., Tokyo, JPN)
Material： Clinical Pediatric Endocrinology  (Clin Pediatr Endocrinol)
Volume： 23  Issue： 3  Page： 65-72 (J-STAGE)  Publication year： 2014 
JST Material Number： L4217A  ISSN： 0918-5739  Document type： Article
Article type： 文献レビュー  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *abnormality ,...
Semi thesaurus term： *computed tomography ,...

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JST classification (3)： Basic medicine on musculoskeletal system  (GG01020B) ,  Molecular genetics in general  (EC02010J) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (37)：

• 1. Clement-Jones, M, Schiller, S, Rao, E, Blaschke, RJ, Zuniga, A, Zeller, R, et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 2000;9: 695-702.
• 2. Rao, E, Weiss, B, Fukami, M, Rump, A, Niesler, B, Mertz, A, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16: 54-63.
• 3. Shears, DJ, Vassal, HJ, Goodman, FR, Palmer, RW, Reardon, W, Superti-Furga, A, et al. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet 1998;19: 70-3.
• 4. Belin, V, Cusin, V, Viot, G, Girlich, D, Toutain, A, Moncla, A, et al. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet 1998;19: 67-9.
• 5. Binder, G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr 2011;75: 81-9.

Terms in the title (3)： 欠乏 ,  骨格 ,  奇形