Chondrodysplasia, Grebe Type
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1429-1
Reference22 articles.
1. Al-Yahyaee SAS, Al-Kindi MN, Habbal O, Kumar DS (2003) Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family. Am J Med Genet A 121(1):9–14
2. Basit S, Naqvi SK-u-H, Wasif N, Ali G, Ansar M, Ahmad W (2008) A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family. BMC Med Genet 9:1–6
3. Chang SC, Hoang B, Thomas JT, Vukicevic S, Luyten FP, Ryba NJ et al (1994) Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development. J Biol Chem 269(45):28227–28234
4. Costa T, Ramsby G, Cassia F, Peters KR, Soares J, Correa J et al (1998) Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers. Am J Med Genet 75(5):523–529
5. Demirhan O, Türkmen S, Schwabe G, Soyupak S, Akgül E, Taştemir D et al (2005) A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. J Med Genet 42(4):314–317
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