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Results 1 - 10 of 135 for Abnormality of the integument
  1. IRF6 gene 
    ... and genitals, resulting in the facial and genital abnormalities, skin webbing, and fusion of the fingers or toes ( ...
    https://medlineplus.gov/genetics/gene/irf6 - Genetics
  2. DSP gene 
    ... disease called arrhythmogenic right ventricular cardiomyopathy (ARVC) without abnormalities of the skin and hair. Although these conditions are all related ...
    https://medlineplus.gov/genetics/gene/dsp - Genetics
  3. LORICRIN gene 
    ... called loricrin keratoderma. This disorder is characterized by skin abnormalities including widespread dry, scaly skin (ichthyosis), especially on ... in the dry, scaly skin (ichthyosis) and other skin abnormalities associated with the variant form of Vohwinkel syndrome. ...
    https://medlineplus.gov/genetics/gene/loricrin - Genetics
  4. KRT5 gene 
    ... Dowling-Degos disease. This condition results in various skin abnormalities, including a characteristic lacy pattern of abnormally dark ... leading to the development of different types of skin abnormalities. Additionally, a deficiency of keratin 5 may disrupt ...
    https://medlineplus.gov/genetics/gene/krt5 - Genetics
  5. GJB2 gene 
    ... with the function of other connexin proteins. These abnormalities could affect skin growth and also impair hearing by disturbing the ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  6. FGFR3 gene 
    ... and distinctive facial features. It also causes a skin abnormality called acanthosis nigricans that is characterized by thick, ... epidermal nevi also occur in people with another skin abnormality called seborrheic keratosis and in people with skeletal ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  7. TGM1 gene 
    ... that covers much of the body, and other skin abnormalities. Some TGM1 gene mutations that cause this condition ... formation of the cornified cell envelope, causing the skin abnormalities of lamellar ichthyosis. More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/tgm1 - Genetics
  8. TRPS1 gene 
    ... bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The mutations ... joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. As a ...
    https://medlineplus.gov/genetics/gene/trps1 - Genetics
  9. ABCA12 gene 
    ... an increased risk of infections; and dehydration. These skin abnormalities tend to be less severe than those in ... epidermis. Problems with this protective barrier underlie the skin abnormalities and other features of NBCIE. More About This ...
    https://medlineplus.gov/genetics/gene/abca12 - Genetics
  10. SPINK5 gene 
    ... thin and breaks down easily, resulting in the skin abnormalities that occur in Netherton syndrome. Loss of LEKT1 function also results in abnormal hair growth. The immune dysfunction that ... microbes in the abnormal skin is also thought to be involved. More About ...
    https://medlineplus.gov/genetics/gene/spink5 - Genetics
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