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Results 1 - 6 of 6 for "Coffin-Siris" syndrome 6
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  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 PubMed
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  2. SMARCA4 gene 
    ... and symptoms of Coffin-Siris syndrome. People with Coffin-Siris syndrome do not appear to have an increased risk of cancer (see below). More About This Health Condition At least six germline variants in the SMARCA4 gene have been ...
    https://medlineplus.gov/genetics/gene/smarca4 - Genetics
  3. TBC1D24 gene 
    ... doi: 10.1002/humu.22557. Epub 2014 May 6. Citation on PubMed or Free article on PubMed Central Campeau PM, Hennekam RC; DOORS syndrome collaborative group. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - 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. 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
  6. Anonychia congenita 
    ... that affect multiple parts of the body, including Coffin-Siris syndrome and nail-patella syndrome. When anonychia congenita is ...
    https://medlineplus.gov/genetics/condition/anonychia-congenita - Genetics