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Results 1 - 4 of 4 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. 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
  3. 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
  4. 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