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Results 1 - 8 of 8 for "Coffin-Siris" syndrome 7
Did you mean "Coffin-iris" syndrome 7?
  1. Coffin-Siris syndrome 
    ... new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related ... de Vries BB, Hennekam RC, van Belzen MJ. Coffin-Siris syndrome and the BAF complex: ... disability. Epigenetics. 2012 Nov;7(11):1219-24. doi: 10.4161/epi.22299. ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  2. SMARCA4 gene 
    ... affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. Citation on PubMed Wilson BG, Roberts CW. SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer. 2011 Jun 9;11(7):481-92. doi: 10.1038/nrc3068. Citation on ...
    https://medlineplus.gov/genetics/gene/smarca4 - Genetics
  3. ARID1B gene 
    ... SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat ... disability. Epigenetics. 2012 Nov;7(11):1219-24. doi: 10.4161/epi.22299. ...
    https://medlineplus.gov/genetics/gene/arid1b - Genetics
  4. TBC1D24 gene 
    ... nonsyndromic hearing loss. Hum Mutat. 2014 Jul;35(7):819-23. doi: ... genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - 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. 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
  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. 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