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Results 31 - 40 of 148 for Down syndrome
  1. KRT14 gene 
    ... or scratching, can cause these cells to break down, resulting in the formation of painful, ... syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR). This disorder is ...
    https://medlineplus.gov/genetics/gene/krt14 - Genetics
  2. FLNB gene 
    ... filamin B protein that is unstable and breaks down rapidly. Loss of the filamin B ... Health Condition Several common variations ( ...
    https://medlineplus.gov/genetics/gene/flnb - Genetics
  3. ERCC6 gene 
    ... produced, it is abnormally short and quickly broken down. Without this protein, skin ... syndrome. Additionally, it is unknown why the Arg77Ter mutation ...
    https://medlineplus.gov/genetics/gene/ercc6 - Genetics
  4. SLC9A6 gene 
    ... protein that is nonfunctional or that is broken down quickly in cells, resulting in the ... syndrome. Some studies have shown that protein trafficking by ...
    https://medlineplus.gov/genetics/gene/slc9a6 - Genetics
  5. CLPP gene 
    ... by the ClpP complex, where they are broken down into small fragments.The ClpP complex is found ... in families with Perrault syndrome, a condition characterized by hearing loss in affected ...
    https://medlineplus.gov/genetics/gene/clpp - Genetics
  6. AFF4 gene 
    ... in an AFF4 protein that is not broken down when it is no longer needed, so more AFF4 ... About This Health Condition The AFF4 gene ...
    https://medlineplus.gov/genetics/gene/aff4 - Genetics
  7. ABCC2 gene 
    ... surface, or cause the protein to be broken down too quickly. All of these mutations ... syndrome. The accumulation of other substances that usually get ...
    https://medlineplus.gov/genetics/gene/abcc2 - Genetics
  8. STAT3 gene 
    ... formation of specialized cells that build and break down bone tissue. These cells are necessary ... people with autosomal dominant hyper-IgE syndrome (AD-HIES), a disorder of the immune system ...
    https://medlineplus.gov/genetics/gene/stat3 - Genetics
  9. UBE3B gene 
    ... Frengen E, Stromme P, Misceo D. Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. Am J Med Genet A. 2015 Mar;167A(3):657-63. doi: 10.1002/ajmg.a.36944. Citation on PubMed
    https://medlineplus.gov/genetics/gene/ube3b - Genetics
  10. LPIN2 gene 
    ... of osteoclasts. Osteoclasts are specialized cells that break down bone tissue and are ... CRMO1 LIPIN 2 ...
    https://medlineplus.gov/genetics/gene/lpin2 - Genetics
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