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Results 1 - 10 of 22 for Brachydactyly type C
  1. ROR2 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/ror2 - Genetics
  2. NOG gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  3. COL2A1 gene 
    ... underdeveloped pelvic bones, unusually short fingers and toes ... chain called the C-propeptide domain. Most often, these variants change a ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  4. 2q37 deletion syndrome 
    ... 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, ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  5. HDAC4 gene 
    ... 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, ...
    https://medlineplus.gov/genetics/gene/hdac4 - Genetics
  6. Chromosome 2 
    ... of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  7. Robinow syndrome 
    ... Jeffery S. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  8. Oral-facial-digital syndrome 
    ... 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- ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  9. Guide to Understanding Pfeiffer Syndrome (Children's Craniofacial Association) - PDF  
    Craniofacial Abnormalities/Specifics ... Craniofacial Abnormalities ... Children's Craniofacial Association ... PDF
    https://ccakids.org/.../uploads/2022/01/pfeiffer-guide_2018.pdf - External Health Links
  10. Platyspondylic lethal skeletal dysplasia, Torrance type 
    ... found to cause platyspondylic lethal skeletal dysplasia, Torrance type occur in a region of the protein called the C-propeptide domain. These mutations interfere with the assembly ...
    https://medlineplus.gov/...c-lethal-skeletal-dysplasia-torrance-type - Genetics
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