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Results 1 - 4 of 4 for Achondrogenesis type 2
  1. Hypochondrogenesis 
    ... disorder that similarly affects bone development. Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal disorder) together affect 1 in ... Widely distributed mutations in the COL2A1 gene produce achondrogenesis type ... Am J Med Genet. 2000 May 15;92(2):95-100. doi: 10.1002/(sici)1096-8628( ...
    https://medlineplus.gov/genetics/condition/hypochondrogenesis - Genetics
  2. Achondrogenesis 
    ... near the groin (an inguinal hernia).Infants with achondrogenesis type 2, which is sometimes called the Langer-Saldino type, ... rare genetic disorders; their incidence is unknown. Combined, achondrogenesis type 2 and hypochondrogenesis (a similar skeletal disorder) occur in ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  3. COL2A1 gene 
    ... or soon after birth.The variants that cause achondrogenesis type 2 change one of the protein building blocks (amino ... Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet. 2000 May 15;92(2):95-100. doi: 10.1002/(sici)1096-8628( ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  4. SLC26A2 gene 
    ... achondrogenesis usually die before or soon after birth.Two SLC26A2 gene mutations appear to be relatively common causes of achondrogenesis type 1B. One of these mutations deletes a single ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics