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Results 1 - 2 of 2 for Chondrodysplasia punctata "2," "X-linked" "dominant," atypical
  1. EBP gene 
    ... and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. Am J ... for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in ...
    https://medlineplus.gov/genetics/gene/ebp - Genetics
  2. X-linked chondrodysplasia punctata 2 
    ... analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. Am J Med Genet A. 2003 Jan 30;116A(3):249-54. doi: 10.1002/ajmg.a.10849. Citation on PubMed
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics