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Results 1 - 8 of 8 for Coffin lower syndrome
  1. SOX11 gene 
    ... DNA is tightly packed, gene expression is often lower than when DNA is loosely packed. The ... syndrome. This condition is characterized by intellectual disability, abnormalities ...
    https://medlineplus.gov/genetics/gene/sox11 - Genetics
  2. Coffin-Siris syndrome 
    ... Short stature-onychodysplasia Genetic Testing Registry: Coffin-Siris syndrome Coffin-Siris syndrome National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. DOORS syndrome 
    ... group. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics