The skeletal dysplasias

Pediatric Endocrinology, Fifth Edition: Volume 2 Growth, Adrenal, Sexual, Thyroid, Calcium, and Fluid Balance Disorders

Volumn , Issue , 2006, Pages 145-162

  Shohat, Mordechai ^a   Rimoin, David L ^b  

^a TEL AVIV UNIVERSITY   (Israel)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882556141     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (17)

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2. Hall CM. International nosology and classification of constitutional disorders of bone. Am J Med Genet 2002; 113: 65-77.
3. Spranger JW, Brill PW, Poznanski AK. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development. Oxford: Oxford University Press, 2002.
4. www.isds.ch.
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8. www.csmc.edu/skeletaldysplasia.
9. Rimoin D, Krakow D. Skeletal dysplasias. In: Maria New, ed. Diagnosis and Treatment of the Unborn Child. Reddick, FL: Idelson-Gnocchi, 1999.
10. Horton WA. Molecular genetics of the human chondrodysplasias. Eur J Hum Genet 1995; 3:357-373.
11. Reardon W. Skeletal dysplasias detectable by DNA analysis. Prenat Diagn 1996; 16:1221-1236.
12. Rimoin DL. Molecular defects in the chondrodysplasias. Clin Courier 1997; 16(27):24-25.
13. Ross JL, Kowal K, Quigley CA, et al. The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. J Pediatr 2005; 147(4):499-507.
14. Benito-Sanz S, Thomas NS, Huber C, et al. A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet 2005; 77(4):533-544.
15. Robertson SP, Twigg SR, Sutherland-Smith AJ, et al. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 2003; 33:487-491.
16. Krakow D, Robertson SP, King LM, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet 2004; 36:405-410.
17. Shohat M, Tick D, Barakat S, Bu X, Melmed S, Rimoin DL. Short-term recombinant human growth hormone treatment increases growth in achondroplasia. J Clin Endocrinol Metab 1996; 81(11):4033-4037.