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Results 1 - 10 of 44 for Congenital disruption
  1. CLPB gene 
    ... Velde C, Rouleau GA, Drapeau P, Michaud JL. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  2. CLPB deficiency 
    ... Velde C, Rouleau GA, Drapeau P, Michaud JL. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  3. Congenital diaphragmatic hernia 
    ... body, but the specific mechanism responsible for this disruption is not clear.Approximately 50 to 60 percent of congenital diaphragmatic hernia cases are isolated, which means that ...
    https://medlineplus.gov/.../congenital-diaphragmatic-hernia - Genetics
  4. RYR1 gene 
    ... an abnormally short, nonfunctional protein. Researchers suspect that disruption of the RYR1 channel may play a role in the muscle weakness and other features of congenital fiber-type disproportion, although the role of RYR1 ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  5. TPO gene 
    ... absent or reduced, leading to the features of congenital hypothyroidism. In ... from a disruption of thyroid hormone synthesis, they are classified as ...
    https://medlineplus.gov/genetics/gene/tpo - Genetics
  6. COG5 gene 
    ... the COG5 gene are known to cause COG5-congenital disorder of glycosylation ... disruption results in abnormal protein glycosylation, which can affect ...
    https://medlineplus.gov/genetics/gene/cog5 - Genetics
  7. SLC5A5 gene 
    ... of thyroid hormones. The signs and symptoms of congenital hypothyroidism ... due to a disruption of thyroid hormone synthesis, they are classified as ...
    https://medlineplus.gov/genetics/gene/slc5a5 - Genetics
  8. SAR1B gene 
    ... Citation on PubMed Levy E. Insights from human congenital disorders ... Gene Disruption: Insight From Cell Culture. Arterioscler Thromb Vasc Biol. ...
    https://medlineplus.gov/genetics/gene/sar1b - Genetics
  9. Chylomicron retention disease 
    ... on PubMed Central Levy E. Insights from human congenital disorders ... Gene Disruption: Insight From Cell Culture. Arterioscler Thromb Vasc Biol. ...
    https://medlineplus.gov/.../condition/chylomicron-retention-disease - Genetics
  10. Keratoconus 
    ... of cell growth. It is thought that a disruption in one of these processes, in combination with an environmental trigger, may lead to the development of keratoconus.Keratoconus can be a feature of genetic syndromes, such as Leber congenital amaurosis and arterial tortuosity syndrome. When it is ...
    https://medlineplus.gov/genetics/condition/keratoconus - Genetics
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