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Results 41 - 50 of 148 for Down syndrome
  1. CDKN1C gene 
    ... the CDKN1C protein, preventing it from being broken down when it is no ... to IMAGe syndrome by impairing normal growth and development. More About ...
    https://medlineplus.gov/genetics/gene/cdkn1c - Genetics
  2. NOG gene 
    ... AND TOES SYMPHALANGISM, PROXIMAL, 1A; SYM1A MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 NOGGIN; NOG BRACHYDACTYLY, TYPE B2; BDB2 NCBI Gene ClinVar Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  3. WRN gene 
    ... with DNA. Furthermore, the shortened protein is broken down more quickly than the ... Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/wrn - Genetics
  4. FGFR2 gene 
    ... normal process in which old bone is broken down and new bone is created to replace ... been found to cause Apert syndrome. This condition causes premature closure of the bones ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  5. DLL4 gene 
    ... an abnormally short protein that is likely broken down quickly, causing a ... Adams-Oliver syndrome; however, some people with DLL4-related Adams-Oliver ...
    https://medlineplus.gov/genetics/gene/dll4 - Genetics
  6. GP1BB gene 
    ... an altered GPIbβ subunit that is likely broken down too soon or that cannot get to the ... antigen CD42b-beta ...
    https://medlineplus.gov/genetics/gene/gp1bb - Genetics
  7. GP9 gene 
    ... an altered GPIX subunit that is likely broken down too soon or that cannot get to the ... CD42a glycoprotein 9 ...
    https://medlineplus.gov/genetics/gene/gp9 - Genetics
  8. FRAS1 gene 
    ... mutations in the FRAS1 gene involved in Fraser syndrome lead to production of an abnormal protein with little or no function. The abnormal protein is likely broken down quickly, preventing formation of the FRAS/FREM complex. ...
    https://medlineplus.gov/genetics/gene/fras1 - Genetics
  9. BCS1L gene 
    ... the protein, and the abnormal protein is broken down more quickly than the ... organs in people with GRACILE syndrome. It is not clear why the liver and ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  10. GP1BA gene 
    ... an altered GPIbα subunit that is likely broken down too soon or that ... Bernard-Soulier syndrome. Other mutations lead to production of a subunit ...
    https://medlineplus.gov/genetics/gene/gp1ba - Genetics
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