Author:
Kantaputra Piranit N,Klopocki Eva,Hennig Bianca P,Praphanphoj Verayuth,Le Caignec Cédric,Isidor Bertrand,Kwee Mei L,Shears Deborah J,Mundlos Stefan
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference25 articles.
1. Kantaputra PN, Gorlin RJ, Langer Jr LO : Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder. Am J Med Genet 1992; 44: 730–737.
2. Kantaputra PN : Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al. Am J Med Genet A 2004; 128A: 1–5.
3. Shears DJ, Offiah A, Rutland P, Sirimanna T, Bitner-Glindzicz M, Hall C : Kantaputra mesomelic dysplasia: a second reported family. Am J Med Genet A 2004; 128A: 6–11.
4. Kwee ML, van de Sluijs JA, van Vugt JM, Wijnaendts LC, Gille JJ : Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. Am J Med Genet A 2004; 128A: 404–409.
5. Ventruto V, Festa B, Renda S et al: [Phenotype anomalies in subjects with balanced chromosome translocation. Presentation of 4 cases]. Pathologica 1983; 75 (Suppl): 258–261.
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