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Results 1 - 7 of 7 for trps1
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  1. Schinzel-Giedion syndrome 
    Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms ...
    https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome - Genetics
  2. TRPS1 gene 
    The TRPS1 gene provides instructions for making a protein that regulates the activity of many other genes. The TRPS1 protein is found within the cell nucleus ...
    https://medlineplus.gov/genetics/gene/trps1 - Genetics
  3. Trichorhinophalangeal syndrome type II 
    ... loss of multiple genes on chromosome 8. The TRPS1, EXT1, and RAD21 genes are missing in people ... in people with TRPS II. Loss of the TRPS1 gene is thought to cause the other bone ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-ii - Genetics
  4. Trichorhinophalangeal syndrome type I 
    ... TRPS I is caused by mutations in the TRPS1 gene. This gene provides instructions for making a ... activity of certain genes. Research suggests that the TRPS1 protein plays a role in regulating genes that ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-i - Genetics
  5. SETBP1 gene 
    ... gene have been identified in children with Schinzel-Giedion syndrome, a severe condition apparent at birth that is ... likely contributes to the many features of Schinzel-Giedion syndrome. However, the exact mechanism that causes this condition ...
    https://medlineplus.gov/genetics/gene/setbp1 - Genetics
  6. Chromosome 8 
    ... greater number of features than smaller deletions.The TRPS1, EXT1, and RAD21 genes are missing in people ... in people with TRPS II. Loss of the TRPS1 gene is thought to cause the other bone ...
    https://medlineplus.gov/genetics/chromosome/8 - Genetics
  7. SETBP1 haploinsufficiency disorder 
    ... language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J Med Genet. 2011 Feb;48(2):117- ...
    https://medlineplus.gov/.../setbp1-haploinsufficiency-disorder - Genetics