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Results 1 - 8 of 8 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. 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
  6. 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
  7. 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
  8. Antiphospholipid syndrome 
    ... a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. ... individuals may have open sores (ulcers) on the skin, migraine headaches, or ... woman's physiology, particularly her immune system, adapts to accommodate the ...
    https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome - Genetics