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Results 1 - 2 of 2 for de Barsy syndrome
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  1. ALDH18A1 gene 
    ... type 3A (ARCL3A, which is also known as de Barsy syndrome). In autosomal dominant cutis laxa, one copy of ... Novelli G, Haberle J, Kornak U, Brancati F. De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  2. PYCR1 gene 
    ... type 3B (ARCL3B, which is also known as de Barsy syndrome).PYCR1 gene variants prevent the production of functional ...
    https://medlineplus.gov/genetics/gene/pycr1 - Genetics