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 - 7 of 7 for "Coffin-Siris" syndrome 5
Did you mean "Coffin-iris" syndrome 5?
  1. SOX11 gene 
    ... N, Matsumoto N. De novo SOX11 mutations cause Coffin-Siris syndrome. Nat Commun. 2014 Jun 2;5:4011. doi: 10.1038/ncomms5011. Citation on PubMed
    https://medlineplus.gov/genetics/gene/sox11 - Genetics
  2. Coffin-Siris syndrome 
    ... N, Matsumoto N. De novo SOX11 mutations cause Coffin-Siris syndrome. Nat Commun. 2014 Jun 2;5:4011. doi: 10.1038/ncomms5011. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  3. SMARCE1 gene 
    ... SNF complex is not completely understood. At least five variants (also known as mutations) in the SMARCE1 gene cause Coffin-Siris syndrome, which is characterized by delayed development, abnormalities of ...
    https://medlineplus.gov/genetics/gene/smarce1 - Genetics
  4. 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
  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. DOORS syndrome 
    ... group. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. ... BH, Sisodiya SM. The genetic basis of DOORS syndrome: an exome-sequencing ... 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29. Citation on PubMed or ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  7. TBC1D24 gene 
    ... group. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. ... BH, Sisodiya SM. The genetic basis of DOORS syndrome: an exome-sequencing ... 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics