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Results 1 - 10 of 238 for Gordon syndrome
  1. Gordon Holmes syndrome is a rare condition characterized by reproductive and neurological problems. One of the key features of ... Some never undergo puberty. While some people with Gordon Holmes syndrome seem to have normal puberty, they develop other ...
  2. ... Familial hypertensive hyperkalemia FHHt Gordon hyperkalemia-hypertension syndrome Gordon's syndrome PHAII Pseudohypoaldosteronism type II Genetic Testing Registry: Pseudohypoaldosteronism ...
  3. ... least six mutations in the PNPLA6 gene cause Gordon Holmes syndrome, a rare condition characterized by ataxia and reduced ... Neuhäuser syndrome (described above), the mutations that cause Gordon Holmes syndrome impair the function of the NTE protein, which ...
  4. ... RNF216 gene mutations have been found to cause Gordon Holmes syndrome, a rare condition characterized by reduced production of ... difficulty coordinating movements (cerebellar ataxia). Many people with Gordon Holmes syndrome caused by RNF216 gene mutations experience a decline ...
  5. Renal Tubular Acidosis From the National Institutes of Health (National Institute of Diabetes and Digestive and Kidney Diseases)  
    ... Danlos, rickets, congenital adrenal insufficiency, aldosterone synthase deficiency, Gordon syndrome, HIV/AIDS, sickle cell disease, urinary tract obstruction
  6. ... Zuchner S. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain. ... esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. J Clin Endocrinol Metab. 2014 Oct;99(10): ...
  7. Cerebellar Disorders (National Library of Medicine)  
    When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. ...
  8. ... The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing ...
  9. ... The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing ...
  10. ... The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing ...
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