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Results 1 - 2 of 2 for Chondrodysplasia punctata "1," "X-linked" recessive
  1. X-linked chondrodysplasia punctata 1 
    ... chondrodysplasia punctata National Organization for Rare Disorders (NORD) CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 PubMed Braverman NE, Bober MB, Brunetti-Pierri ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-1 - Genetics
  2. ARSL gene 
    ... Ballabio A, Andria G, Meroni G, Parenti G. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. Am J Med Genet A. 2003 Mar 1;117A(2):164-8. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/genetics/gene/arsl - Genetics