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Results 1 - 10 of 39 for coloboma
  1. ... PAX2 gene have been found to cause renal coloboma syndrome. Most variants are specific to each affected ... development, causing the signs and symptoms of renal coloboma syndrome. More About This Health Condition MedlinePlus Genetics ...
  2. ... PAX6 gene can cause an eye problem called coloboma, in which there is a gap or split ... a transcription factor.In addition to microphthalmia or coloboma (described above), individuals with these relatively mild PAX6 ...
  3. ... several of the features common in the disorder: coloboma, heart defect, atresia choanae (also known as choanal ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition CHD7_HUMAN FLJ20357 ...
  4. ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition MedlinePlus Genetics provides ... and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat. 2008 Nov;29(11):E278-83. ...
  5. ... pieces of tissue in eye structures (choristomas or colobomas), underdeveloped bones, and a disorder called rickets that ...
  6. ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition activating enhancer-binding ...
  7. ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition ACT ACTG ACTG_ ...
  8. ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition TCOF_HUMAN TCS ...
  9. ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition Some gene variants ...
  10. ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition Genetic changes involving ...
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