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 - 4 of 4 for "Coffin-Siris" syndrome 12
Did you mean "Coffin-iris" syndrome 12?
  1. Coffin-Siris syndrome 
    ... SA. Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome. Genes (Basel). 2021 Jun 19;12(6):937. doi: 10.3390/genes12060937. Citation on ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  2. SOX11 gene 
    ... Wieczorek D, Wollnik B, Matsumoto N, Deardorff MA. Coffin-Siris Syndrome. 2013 Apr 4 [updated 2021 Aug 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ... N. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. J Hum Genet. 2019 Dec;64(12):1173-1186. doi: 10.1038/s10038-019-0667- ...
    https://medlineplus.gov/genetics/gene/sox11 - Genetics
  3. 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
  4. 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