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Results 31 - 40 of 49 for Abnormality of the liver
  1. IFT122 gene 
    ... and tissues, including cells in the kidneys and liver and the light-sensitive tissue at the back ... and other distinctive facial features; short bones; and abnormalities of certain tissues known as ectodermal tissues, which ...
    https://medlineplus.gov/genetics/gene/ift122 - Genetics
  2. IFT43 gene 
    ... and tissues, including cells in the kidneys and liver and the light-sensitive tissue at the back ... and other distinctive facial features; short bones; and abnormalities of certain tissues known as ectodermal tissues, which ...
    https://medlineplus.gov/genetics/gene/ift43 - Genetics
  3. TWNK gene 
    ... experience weak muscle tone (hypotonia), a decrease in liver function, developmental delay, seizures, and loss of sensation ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  4. MASP1 gene 
    ... complexes of native collectin kidney 1 and collectin liver 1 are found in the circulation with MASPs ...
    https://medlineplus.gov/genetics/gene/masp1 - Genetics
  5. IFT140 gene 
    ... types of cells, including cells in the kidneys, liver, and brain. Light-sensing cells (photoreceptors) in the ... characterized by kidney disease, eye problems, and skeletal abnormalities. Mutations in the IFT140 gene that cause Mainzer- ...
    https://medlineplus.gov/genetics/gene/ift140 - Genetics
  6. SLC26A4 gene 
    ... also found in other tissues, including the kidneys, liver, and lining of the airways. Researchers are studying ... gland (called a goiter), hearing loss, and other abnormalities of the inner ear, including an enlarged vestibular ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
  7. EPM2A gene 
    ... body. The body stores this sugar in the liver and muscles, breaking it down when it is ... degeneration of neurons likely underlies the seizures, movement abnormalities, intellectual decline, and other neurological problems seen with ...
    https://medlineplus.gov/genetics/gene/epm2a - Genetics
  8. ITGB4 gene 
    ... many tissues and organs, including the breast, lung, liver, colon, and skin.Changes in the location and ... RA, McGrath JA. Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. Br ...
    https://medlineplus.gov/genetics/gene/itgb4 - Genetics
  9. PSMB8 gene 
    ... skin, recurrent fevers, joint problems, and an enlarged liver and spleen (hepatosplenomegaly). It is less clear how ... syndrome. All three conditions are characterized by skin abnormalities and lipodystrophy. Although they are often considered separate ...
    https://medlineplus.gov/genetics/gene/psmb8 -
  10. GPC3 gene 
    ... types of cells, such as cells in the liver, glypican 3 may interact with proteins called growth ... changes in hedgehog signaling contribute to the other abnormalities that can occur with this disorder. More About ...
    https://medlineplus.gov/genetics/gene/gpc3 - Genetics
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