Skeletal Deformity Associated with <i>SHOX</i> Deficiency-Reference-Cited by-同舟云学术

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Skeletal Deformity Associated with SHOX Deficiency

Published:2014 Issue:3 Volume:23 Page:65-72
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Seki Atsuhito¹,Jinno Tomoko²,Suzuki Erina²,Takayama Shinichiro¹,Ogata Tsutomu³,Fukami Maki²

Affiliation:

1. Department of Orthopedic Surgery, National Center for Child Health and Development, Tokyo, Japan

2. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan

3. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

https://www.jstage.jst.go.jp/article/cpe/23/3/23_9992/_pdf

Reference37 articles.

1. 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. 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. 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. 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. 5. Binder, G. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Horm Res Paediatr 2011;75: 81–9.

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