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Results 1 - 10 of 10 for "Coffin-Siris" syndrome 1
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  1. Coffin-Siris syndrome 
    ... Siris syndrome National Organization for Rare Disorders (NORD) COFFIN-SIRIS SYNDROME 1; CSS1 PubMed Bramswig NC, Caluseriu O, Ludecke HJ, ... the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. Am J Hum Genet. 2018 Mar 1;102(3):468-479. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  2. 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
  3. 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
  4. Developmental Disabilities (National Library of Medicine)  
    Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics
  5. 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
  6. 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
  7. 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
  8. 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 study. Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13) ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  9. 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
  10. 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