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Results 1 - 2 of 2 for encephalocele
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  1. COL18A1 gene 
    ... problems and a skull defect called an occipital encephalocele. Most COL18A1 gene mutations lead to an abnormally ...
    https://medlineplus.gov/genetics/gene/col18a1 - Genetics
  2. CEP290 gene 
    ... Badano JL, Katsanis N. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics