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Results 1 - 7 of 7 for "Coffin-Siris" syndrome
Did you mean "Coffin-iris" syndrome?
  1. ARID1B gene 
    ... the ARID1B gene have been found to cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities ... as coarse. Most ARID1B gene variants involved in Coffin-Siris syndrome lead to an abnormally short, nonfunctional protein. As ...
    https://medlineplus.gov/genetics/gene/arid1b - Genetics
  2. SOX11 gene 
    ... the SOX11 gene have been found to cause Coffin-Siris syndrome. This condition is characterized by intellectual disability, abnormalities ... as coarse. Most SOX11 gene variants involved in Coffin-Siris syndrome alter the SOX11 protein or prevent its production. ...
    https://medlineplus.gov/genetics/gene/sox11 - Genetics
  3. SMARCB1 gene 
    ... the SMARCB1 gene have been found to cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities ... as coarse. The SMARCB1 gene variants involved in Coffin-Siris syndrome are germline variants, which means that they are ...
    https://medlineplus.gov/genetics/gene/smarcb1 - Genetics
  4. ARID1A gene 
    ... as mutations) in the ARID1A gene can cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities ... as coarse. The ARID1A gene variants involved in Coffin-Siris syndrome lead to an abnormally short, nonfunctional protein. As ...
    https://medlineplus.gov/genetics/gene/arid1a - Genetics
  5. SMARCA4 gene 
    ... the SMARCA4 gene have been found to cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities ... as coarse. The SMARCA4 gene variants involved in Coffin-Siris syndrome are germline variants, which means that they are ...
    https://medlineplus.gov/genetics/gene/smarca4 - Genetics
  6. SMARCE1 gene 
    ... known as mutations) in the SMARCE1 gene cause Coffin-Siris syndrome, which is characterized by delayed development, abnormalities of ... as coarse. Most SMARCE1 gene variants involved in Coffin-Siris syndrome change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/smarce1 - Genetics
  7. TBC1D24 gene 
    ... group. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics