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Results 1 - 5 of 5 for "Septo-optic" dysplasia sequence
  1. ... Septooptic dysplasia SOD Genetic Testing Registry: Septo-optic dysplasia sequence Septo-optic dysplasia spectrum National Organization for Rare Disorders (NORD) ...
  2. ... HESX1 gene have been identified in people with septo-optic dysplasia. Some of these mutations change single DNA building ... brain development lead to the characteristic features of septo-optic dysplasia.Studies suggest that mutations in the HESX1 gene ...
  3. ... identified in people with the major features of septo-optic dysplasia. Some of these mutations prevent the production of ... with development lead to the major features of septo-optic dysplasia, including eye abnormalities, underdevelopment of the pituitary gland ( ...
  4. ... a transcription factor. MedlinePlus Genetics provides information about Septo-optic dysplasia More About This Health Condition At least 33 ...
  5. ... This Health Condition MedlinePlus Genetics provides information about Septo-optic dysplasia More About This Health Condition A few mutations ...