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Results 1 - 10 of 24 for Brachydactyly type C
  1. ... ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat Genet. 2000 Mar;24(3):275-8. doi: 10.1038/73495. Citation on PubMed Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge ...
  2. ... KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. A new subtype of brachydactyly type B caused by point mutations in the bone ...
  3. ... 3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. Am J Med Genet A. 2015 Jan;167A(1):185-9. doi: 10.1002/ajmg.a.36428. Epub 2014 Nov 17. Citation on PubMed Leroy C, Landais E, Briault S, David A, Tassy O, ...
  4. ... 3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. Am J Med Genet A. 2015 Jan;167A(1):185-9. doi: 10.1002/ajmg.a.36428. Epub 2014 Nov 17. Citation on PubMed Leroy C, Landais E, Briault S, David A, Tassy O, ...
  5. ... with short ribs, unusually short fingers and toes (brachydactyly), and ... chain called the C-propeptide domain. This region plays an important role ...
  6. ... of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J ...
  7. ... Jeffery S. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat ...
  8. ... The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4): ... Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clin Genet. 2010 Mar;77(3):258- ...
  9. ... the COL2A1 variants that cause platyspondylic dysplasia, Torrance type affect a region of the protein called the C-propeptide domain. These variants cause the cell to ...
  10. Guide to Understanding Pfeiffer Syndrome (Children's Craniofacial Association) - PDF  
    Craniofacial Abnormalities/Specifics ... Craniofacial Abnormalities ... Children's Craniofacial Association ... PDF
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