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Results 1 - 10 of 556 for Addition
  1. ... of proteins called the FRAS/FREM complex; in addition to being part of the complex, FREM2 regulates ...
  2. ... substance that covers and protects nerve cells. In addition to problems with brain development, breakdown (degeneration) of ... lose this skill when they get older. In addition, affected children cannot walk or speak.Another characteristic ...
  3. ... a lack of oxygen causes heart disease. In addition, damage to the arteries increases the risk of ... from other disorders that raise blood pressure in addition to other problems. Rare, genetic forms of hypertension ...
  4. ... the surface tension-lowering property of surfactant. In addition, SP-B plays a role in the formation ... in or absence of mature SP-B. In addition, SFTPB gene mutations cause abnormal processing of SP- ...
  5. ... binding protein is called a histone acetyltransferase.In addition, CREB binding protein connects other proteins that start ... have been identified, including the loss (deletion) or addition (insertion) of genetic material in the gene and ...
  6. ... are lost in early childhood (developmental regression). In addition, individuals with H-ABC have other movement abnormalities, ... characterized by particular brain abnormalities, including hypomyelination. In addition, tissue in certain regions of the brain breaks ...
  7. ... type 1 (PCH1) and type 2 (PCH2). In addition to the brain abnormalities described above, PCH1 causes ... the TSEN54, TSEN2, TSEN34, or SEPSECS gene. In addition to causing PCH1 and PCH2, mutations in the ...
  8. ... form extra "soft spots" on the head, in addition to the two that newborns normally have. Unlike ... symptoms of Potocki-Shaffer syndrome vary widely. In addition to multiple osteochondromas and enlarged parietal foramina, affected ...
  9. ... spasticity) and difficulty with coordinating movements (ataxia). In addition, affected individuals lose the ability to sense the ... the pyramidal tract and the dorsal column. In addition, most affected individuals have a high level of ...
  10. ... 1 involves severe problems with brain function in addition to the distinctive skin and hair coloring. Affected ... syndrome type 2 have immune system abnormalities in addition to having hypopigmented skin and hair. Affected individuals ...
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