Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 11 for "Coffin-Siris" syndrome
Did you mean "Coffin-iris" syndrome?
  1. Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include ...
  2. ... 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 ...
  3. ... 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. ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... 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 ...
  7. ... 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 ...
  8. ... group. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. ...
  9. ... group. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. ...
  10. ... that affect multiple parts of the body, including Coffin-Siris syndrome and nail-patella syndrome. When anonychia congenita is ...
previous · 1 · 2 · next