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Results 1 - 6 of 6 for "Coffin-Siris" syndrome 1
Did you mean "Coffin-iris" syndrome 1?
  1. SMARCB1 gene 
    ... M, Wollnik B. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1. Citation on PubMed
    https://medlineplus.gov/genetics/gene/smarcb1 - Genetics
  2. SMARCE1 gene 
    ... could explain the diverse signs and symptoms of Coffin-Siris syndrome. More About This Health Condition ... PubMed SWI/SNF-RELATED, MATRIX- ...
    https://medlineplus.gov/genetics/gene/smarce1 - Genetics
  3. ARID1A gene 
    The ARID1A gene provides instructions for making a protein that forms one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes ...
    https://medlineplus.gov/genetics/gene/arid1a - 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. 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 study. Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13) ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics