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Results 1 - 10 of 11 for Abnormality of skin physiology
  1. Bart-Pumphrey syndrome 
    ... The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/bart-pumphrey-syndrome - Genetics
  2. Keratitis-ichthyosis-deafness syndrome 
    ... The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/.../keratitis-ichthyosis-deafness-syndrome - Genetics
  3. Palmoplantar keratoderma with deafness 
    ... BJ. The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13. ... available. Citation on PubMed
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
  4. Hystrix-like ichthyosis with deafness 
    ... BJ. The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/.../hystrix-like-ichthyosis-with-deafness - Genetics
  5. GJB2 gene 
    ... BJ. The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  6. GJB6 gene 
    ... BJ. The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys ...
    https://medlineplus.gov/genetics/gene/gjb6 - Genetics
  7. Vohwinkel syndrome 
    ... BJ. The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/vohwinkel-syndrome - Genetics
  8. SLC4A1-associated distal renal tubular acidosis 
    ... kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products ... kidney stones (nephrolithiasis). In rare cases, these kidney abnormalities lead to life-threatening kidney failure. Affected individuals ...
    https://medlineplus.gov/...-associated-distal-renal-tubular-acidosis - Genetics
  9. SLC4A1 gene 
    ... people with this condition also have blood cell abnormalities, such as hereditary spherocytosis, hereditary stomatocytosis, or Southeast Asian ovalocytosis (described below). The blood cell abnormalities can lead to hemolytic anemia, in which the ...
    https://medlineplus.gov/genetics/gene/slc4a1 - Genetics
  10. Imerslund-Gräsbeck syndrome 
    ... begins in infancy or early childhood. The blood abnormality leads to many of the signs and symptoms ... delayed development, or confusion. Rarely, affected individuals have abnormalities of organs or tissues that make up the ...
    https://medlineplus.gov/.../condition/imerslund-grasbeck-syndrome - Genetics
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