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Results 1 - 10 of 20 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. 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
  6. 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
  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. McCune-Albright syndrome 
    ... the bone ( fibrous dysplasia ) Tests may show: Adrenal abnormalities High level of parathyroid hormone ( hyperparathyroidism ) High level ...
    https://medlineplus.gov/ency/article/001217.htm - Medical Encyclopedia
  10. Macroglossia 
    ... PA: Elsevier; 2023:chap 162. Sankaran S, Kyle P. Abnormalities of the face and neck. In: Coady AM, Bowler S, eds. Twining's Textbook of Fetal Abnormalities . 3rd ed. Philadelphia, PA: Elsevier Churchill Livingstone; 2015: ...
    https://medlineplus.gov/ency/article/002250.htm - Medical Encyclopedia
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