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Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.
Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS. Al-Yahyaee SA, et al. Am J Med Genet A. 2003 Aug 15;121A(1):9-14. doi: 10.1002/ajmg.a.20256. Am J Med Genet A. 2003. PMID: 12900894
Grebe syndrome is a rare autosomal recessive acromesomelic dysplasia. ...The A1137G is a silent mutation coding for lysine, whereas the delG1144 predicts a frameshift mutation resulting in a presumable loss of the CDMP-1 biologically active carboxy-terminal d …
Grebe syndrome is a rare autosomal recessive acromesomelic dysplasia. ...The A1137G is a silent mutation coding for lysine, wh …
Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.
Martinez-Garcia M, Garcia-Canto E, Fenollar-Cortes M, Aytes AP, Trujillo-Tiebas MJ. Martinez-Garcia M, et al. J Bone Miner Metab. 2016 Sep;34(5):599-603. doi: 10.1007/s00774-015-0693-z. Epub 2015 Aug 15. J Bone Miner Metab. 2016. PMID: 26275437
Acromesomelic dysplasia, Grebe type is a very rare skeletal dysplasia characterized by severe dwarfism with marked micromelia and deformation of the upper and lower limbs, with a proximodistal gradient of severity. CDMP1 gene mutations have been associated with Grebe sy …
Acromesomelic dysplasia, Grebe type is a very rare skeletal dysplasia characterized by severe dwarfism with marked micromelia and deformatio …